„”
Prof. Dr. Dr.
Thomas J. Jentsch studied both medicine and physics at the FU Berlin. After having obtained doctoral degrees in both areas, he did postdoctoral research in transport physiology in Berlin and molecular cell biology with Harvey Lodish at the Whitehead Institute/MIT. In 1988, he was a founding member of the Center for Molecular Neurobiology Hamburg (ZMNH), where he made his first seminal discoveries. In 2006 he moved his lab to Berlin, joining the FMP and MDC. Thomas Jentsch’s research is concerned with ion transport in the broadest sense. He is arguably the world leader in the field of chloride transport.
'My lab is broadly interested in ion transport processes. Our research spans the whole spectrum from newly identifying ‘novel’ ion channels to studying how their structure determines biophysical transport properties, to determining their role in cellular and organismal processes. Besides plasma membrane channels, we elucidate the roles of ion transport in intracellular organelles. A strong focus is on the role of ion transport in physiology and disease, which we address with genetic mouse models and human genetics.
We are particularly interested in anion channels. We discovered, for the first time, the CLC family of anion channels and transporters (1990), the molecular identities of volume-regulated VRAC/LRRC8 anion channels (2014) and of acid-activated ASOR/TMEM206 Cl channels (2019). We discovered and/or analyzed the roles of CLCs in myotonia, kidney stones, osteopetrosis, neurodegeneration, leukodystrophy, blindness, deafness, infertility, renal salt loss and aldosteronism.
We also discovered all four neuronal Kv7 K channels (KCNQ2-KCNQ5), their role in epilepsy and deafness, and studied the (patho-)physiology of the K-Cl cotransporters KCC2, -3, and -4 using mouse models.’
– 1982
– 1991
Habilitation in Cell Biochemistry
1981 – 1985
1986 – 1988
Postdoctoral Fellow
1988 – 1993
Research Group Leader
1993 – 2006
Full Professor & Director
1995 – 1998
2001 – 2003
since 2006
Full Professor
since 2006
Head of Department Physiology & Pathology of Ion Transport
2009 – 2021
Wilhelm-Vaillant-Preis for biomedical research
1992
Gottfried Wilhelm Leibniz Prize of the Deutsche Forschungsgemeinschaft (DFG)
1995
Alfred Hauptmann Preis for research on epilepsy
1998
Franz Volhard Preis for research in nephrology
1998
International Prize for Translational Neuroscience of the Gertrud-Reemtsma Foundation
1999
Feldberg Prize of the Feldberg Foundation for Anglo-German Scientific Exchange
2000
Familie Hansen Preis
2000
Prix Louis-Jeantet de médecine
2000
Elected Member of the Academia Europaea
2000
Elected Member of EMBO
2000
Ernst-Jung Preis für Medizin
2001
Elected member of the Berlin-Brandenburg Academy of Sciences and Humanities
2001
'Berliner Professorship' Lecture, Yale University
2003
Carl W. Gottschalk Distinguished Lectureship (American Physiological Society)
2004
Adolf-Fick-Prize for Physiology
2004
Elected Member of the Deutsche Akademie der Naturforscher Leopoldina/National Academy of Science
2004
Homer W. Smith Award (American Society of Nephrology)
2004
Founding member of the Akademie der Wissenschaften in Hamburg
2006
Hodgkin-Huxley-Katz Prize Lecture (Physiological Society, UK)
2006
European Research Council (ERC) Advanced Investigator
2011
Hans Ussing Award Lecture (American Physiological Society)
2012
Cátedra de Investigación Dr. García-Sainz, Univ. Autón. San Luís Potosí
2013
Awarded second European Research Council (ERC) Advanced Grant
2017
Honorary Degree (Dr. h.c.) by Medical Faculty of Hamburg University
2017
Science Prize 'Society needs Science' (by Stifterverband/Leibniz Society)
2018
KCNQ5 Controls Perivascular Adipose Tissue–Mediated Vasodilation
Hypertension 2024
read onlineLRRC8/VRAC volume-regulated anion channels are crucial for hearing
Journal of Biological Chemistry 2024
read onlineGain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease
Journal of Biological Chemistry 2024
read onlineClC-7 drives intraphagosomal chloride accumulation to support hydrolase activity and phagosome resolution
Journal of Cell Biology 2023
read onlineImpaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl−/H+ Exchanger ClC-7
Biomolecules 2023
read onlineGating choreography and mechanism of the human proton-activated chloride channel ASOR
Science Advances 2022
read onlineProton-gated anion transport governs macropinosome shrinkage
Nature Cell Biology 2022
read onlineRenal Deletion of LRRC8/VRAC Channels Induces Proximal Tubulopathy
Journal of the American Society of Nephrology 2022
read onlineTransfer of cGAMP into Bystander Cells via LRRC8 Volume-Regulated Anion Channels Augments STING-Mediated Interferon Responses and Anti-viral Immunity
Immunity 2020
read onlineCryo-EM structure of the volume-regulated anion channel LRRC8D isoform identifies features important for substrate permeation
Communications Biology 2020
read onlineA recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H+-exchanger, causes early-onset neurodegeneration
Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism
Nature Communications 2019
read onlineIdentification of TMEM206 proteins as pore of ASOR acid-sensitive chloride channels
Identification of TMEM206 proteins as pore of PAORAC/ASOR acid-sensitive chloride channels
eLife 2019
read onlineCLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease
Physiological Reviews 2018
read onlineA gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
Nature Genetics 2018
read onlineLRRC8/VRAC anion channels enhance β-cell glucose sensing and insulin secretion
Nature Communications 2018
read onlineK <inf>2P</inf> TASK-2 and KCNQ1–KCNE3 K <sup>+</sup> channels are major players contributing to intestinal anion and fluid secretion
Journal of Physiology 2018
read onlineReply from L. P. Cid, T. J. Jentsch and F. V. Sepúlveda: intestinal electrolyte and fluid secretion – a model in trouble?
Journal of Physiology 2018
read onlineDe novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
Molecular Psychiatry 2018
read onlineCa2+-activated Cl−currents in the murine vomeronasal organ enhance neuronal spiking but are dispensable for male-male aggression
Journal of Biological Chemistry 2018
read onlineLRRC8/VRAC anion channels are required for late stages of spermatid development in mice
Journal of Biological Chemistry 2018
read onlineLRRC8 N termini influence pore properties and gating of volume-regulated anion channels (VRACs)
Journal of Biological Chemistry 2018
read onlineThe ClC-K2 chloride channel is critical for salt handling in the distal nephron
Journal of the American Society of Nephrology 2017
read onlineLoss of the Na+/H+ exchanger NHE8 causes male infertility in mice by disrupting acrosome formation
Journal of Biological Chemistry 2017
read onlineSelective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels
Journal of Cell Science 2017
read onlineDe novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Disruption of Kcc2-dependent inhibition of olfactory bulb output neurons suggests its importance in odour discrimination.
The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.
Inactivation and Anion Selectivity of Volume-Regulated VRAC Channels Depend on Carboxy-Terminal Residues of the First Extracellular Loop.
VRACs and other ion channels and transporters in the regulation of cell volume and beyond.
Inactivation and anion selectivity of volume-regulated anion channels (VRACs) depend on c-terminal residues of the first extracellular loop
Journal of Biological Chemistry 2016
read onlineKCNQ Potassium Channels Modulate Sensitivity of Skin Down-hair (D-hair) Mechanoreceptors.
VRAC: molecular identification as LRRC8 heteromers with differential functions.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
Optogenetic acidification of synaptic vesicles and lysosomes.
Subunit composition of VRAC channels determines substrate specificity and cellular resistance to Pt-based anti-cancer drugs.
Departure gate of acidic Ca²⁺ confirmed.
Discovery of CLC transport proteins: cloning, structure, function and pathophysiology.
KCNQ5 K(+) channels control hippocampal synaptic inhibition and fast network oscillations.
Discovery of CLC transport proteins: cloning, structure, function and pathophysiology.
Stretch-activation of angiotensin II type 1a receptors contributes to the myogenic response of mouse mesenteric and renal arteries.
Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.
Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC.
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.
From mice to man: chloride transport in leukoencephalopathy.
Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Vestibular role of KCNQ4 and KCNQ5 K+ channels revealed by mouse models.
Chloride in vesicular trafficking and function.
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.
Cell biology and physiology of CLC chloride channels and transporters.
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning.
KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.
Enhanced Synaptic Activity and Epileptiform Events in the Embryonic KCC2 Deficient Hippocampus.
Generation and analyses of R8L barttin knockin mouse.
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
Ca2+-activated Cl− currents are dispensable for olfaction.
The CLC family of chloride channels and transporters
Physiology and Pathology of chloride transporters and channels in the nervous system 2010
read onlineSorting motifs of the endosomal/lysosomal CLC chloride transporters.
A cation counterflux supports lysosomal acidification.
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
The KCNQ5 potassium channel mediates a component of the afterhyperpolarization current in mouse hippocampus.
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis.
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.
Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation.
Disruption of the K+ channel beta-subunit KCNE3 reveals an important role in intestinal and tracheal Cl- transport.
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.
Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.
ClC-3--a granular anion transporter involved in insulin secretion?
Potassium ion movement in the inner ear: insights from genetic disease and mouse models.
Residues important for nitrate/proton coupling in plant and mammalian CLC transporters.
Chloride channelopathies.
NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development.
Erratum: Comment and reply on: CLC chloride channels and transporters: from genes to protein structure,pathology and physiology (Critical Reviews in Biochemistry and Molecular Biology (2009) 44: 4 (63-64)
Critical Reviews in Biochemistry and Molecular Biology 2009
read onlineTo the editor
Critical Reviews in Biochemistry and Molecular Biology 2009
read onlineLysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.
Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules.
CLC chloride channels and transporters: from genes to protein structure, pathology and physiology.
Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.
Role of the vesicular chloride transporter ClC-3 in neuroendocrine tissue.
Kv7 channels: interaction with dopaminergic and serotonergic neurotransmission in the CNS.
Channelopathies of transepithelial transport and vesicular function.
Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.
Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.
Detection and differentiation of sensorineural hearing loss in mice using auditory steady-state responses and transient auditory brainstem responses.
Leukoencephalopathy upon disruption of the chloride channel ClC-2.
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Kidney-specific upregulation of vitamin D3 target genes in ClC-5 KO mice.
Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.
ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function.
Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.
Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.
Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.
Physiological Functions of the CLC Chloride Transport Proteins
Advances in Molecular and Cell Biology 2006
read onlineChloride channel diseases resulting from impaired transepithelial transport or vesicular function.
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.
CLC chloride channels and transporters.
Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.
Chloride transport in the kidney: lessons from human disease and knockout mice.
Unique structure and function of chloride transporting CLC proteins.
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.
Ion channels: function unravelled by dysfunction.
Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte.
Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models.
Functional and structural conservation of CBS domains from CLC chloride channels.
Expression of the KCl cotransporter KCC2 parallels neuronal maturation and the emergence of low intracellular chloride.
Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.
The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.
Erratum: Molecular structure and physiological function of chloride channels (Physiological Reviews (April 2002) 82 (503-568))
Physiological Reviews 2003
read onlineThe CIC-5 chloride channel knock-out mouse - An animal model for Dent's disease
Pflugers Archiv European Journal of Physiology 2003
read onlineLoss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
Voltage-Gated Ion Channels
Wiley Encyclopedia of Molecular Medicine 2002
read onlineChloride channels are different.
Ion channel diseases.
CLC chloride channels: correlating structure with function.
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.
Molecular structure and physiological function of chloride channels.
Ion channel diseases
Human Molecular Genetics 2002
read onlineDisruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition.
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption.
Tissue distribution and subcellular localization of the ClC-5 chloride channel in rat intestinal cells.
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.
Tissue distribution and subcellular localization of the C1C-5 chloride channel in rat intestinal cells
American Journal of Physiology - Cell Physiology 2001
read onlinePlanned law could put German research at risk [4]
Nature 2001
read onlineAn internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.
Pores formed by single subunits in mixed dimers of different CLC chloride channels.
A constitutively open potassium channel formed by KCNQ1 and KCNE3.
Pathophysiology of KCNQ channels: neonatal epilepsy and progressive deafness.
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
Functional and structural analysis of ClC-K chloride channels involved in renal disease.
Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.
ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.
Neuronal KCNQ potassium channels: physiology and role in disease.
KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.
KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents.
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
From tonus to tonicity: physiology of CLC chloride channels.
Neurological diseases caused by ion-channel mutations.
Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.
Mutations in the a3 subunit of the vacuolar H<sup>+</sup>-ATPase cause infantile malignant osteopetrosis
Human Molecular Genetics 2000
read onlineFrom tonus to tonicity: Physiology of CLC chloride channels
Journal of the American Society of Nephrology 2000
read onlineCharacterization of renal chloride channel (CLCN5) mutations in Dent's disease
Journal of the American Society of Nephrology 2000
read onlineCLC chloride channels in Caenorhabditis elegans.
The CLC chloride channel family.
Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.
Chloride dependence of hyperpolarization-activated chloride channel gates.
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Golgi localization and functionally important domains in the NH2 and COOH terminus of the yeast CLC putative chloride channel Gef1p.
Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions.
Determinants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata.
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
KCNQ2, the first gene found to be mutated in human generalized idiopathic epilepsy,Le KCNQ2 est le premier gene pour lequel une mutation est demontree chez des patients souffrant d'epilepsie generalisee idiopathique
Pathologie Biologie 1998
read onlineDeterminants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata
American Journal of Physiology - Cell Physiology 1998
read onlineMolecular physiology of renal chloride channels.
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells.
Characterization of the hyperpolarization-activated chloride current in dissociated rat sympathetic neurons.
A potassium channel mutation in neonatal human epilepsy.
CLC chloride channels in human disease
FASEB Journal 1997
read onlineLocalization and induction by dehydration of ClC-K chloride channels in the rat kidney
American Journal of Physiology - Renal Physiology 1997
read onlineMolecular dissection of gating in the ClC-2 chloride channel.
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1.
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
Independent gating of single pores in CLC-0 chloride channels.
Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions.
Transmembrane topology of a CLC chloride channel.
Localization and induction by dehydration of ClC-K chloride channels in the rat kidney.
Analysis of a protein region involved in permeation and gating of the voltage-gated Torpedo chloride channel ClC-0.
Chloride channels: an emerging molecular picture.
Temperature dependence of fast and slow gating relaxations of ClC-0 chloride channels.
Chloride channel myotonias
Neuroscientist 1996
read onlineA family of putative chloride channels from Arabidopsis and functional complementation of a yeast strain with a CLC gene disruption.
Concentration and pH dependence of skeletal muscle chloride channel ClC-1.
Heteromultimeric CLC chloride channels with novel properties.
Alteration of GABAA receptor function following gene transfer of the CLC-2 chloride channel.
Two physically distinct pores in the dimeric ClC-0 chloride channel.
Chloride channels: a molecular perspective.
A common molecular basis for three inherited kidney stone diseases.
Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease.
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Molecular basis of epithelial Cl channels.
Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion.
Myotonias due to CLC-1 chloride channel mutations.
Properties of voltage-gated chloride channels of the ClC gene family.
Myotonias due to CLC-1 chloride channel mutations.
Society of General Physiologists series 1995
read onlineMyotonias due to CLC-1 chloride channel mutations
Journal of General Physiology 1995
read onlineSpectrum of mutations in the major human skeletal muscle chloride channel gene (CLCNI) leading to myotonia
American Journal of Human Genetics 1995
read onlineProperties of voltage‐gated chloride channels of the ClC gene family.
The Journal of Physiology 1995
read onlineChloride channel 2 gene (Clc2) maps to chromosome 16 of the mouse, extending a region of conserved synteny with human chromosome 3q
Genetical Research 1995
read onlineChloride channel 2 gene (Clc2) maps to chromosome 16 of the mouse, extending a region of conserved synteny with human chromosome 3q.
ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.
Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle.
Molecular physiology of voltage-gated chloride channels.
Molecular physiology of anion channels.
Two highly homologous members of the ClC chloride channel family in both rat and human kidney.
Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.
Chapter 2 Molecular Biology of Voltage-Gated Chloride Channels
Chloride Channels 1994
read onlineStructure and function of ClC chloride channels.
The Japanese journal of physiology 1994
read onlineRole of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle
Journal of Biological Chemistry 1994
read onlineNonsense and missense mutations in the muscular chloride channel gene Clc- 1 of myotonic mice
Journal of Biological Chemistry 1994
read onlineMultimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)
EMBO Journal 1994
read onlineMolecular physiology of voltage-gated chloride channels
Physiological Reviews 1994
read onlineGenomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
Trinity of cation channels.
The ClC family of voltage-gated chloride channels: structure and function.
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)
Journal of Medical Genetics 1993
read onlineRecessive and dominant human myotonias are due to mutations of a chloride channel
Biomedicine and Pharmacotherapy 1993
read onlineChloride channels.
Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume.
The skeletal muscle chloride channel in dominant and recessive human myotonia.
A chloride channel widely expressed in epithelial and non-epithelial cells.
Completely functional double-barreled chloride channel expressed from a single Torpedo cDNA.
Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel.
Regulation of intracellular pH in cultured bovine retinal pigment epithelial cells.
Regulation of cytoplasmic pH of cultured bovine corneal endothelial cells in the absence and presence of bicarbonate.
Kinetic properties of the sodium bicarbonate (carbonate) symport in monkey kidney epithelial cells (BSC-1). Interactions between Na+, HCO-3, and pH.
Electrical properties of sodium bicarbonate symport in kidney epithelial cells (BSC-1).
The regulation of intracellular pH in monkey kidney epithelial cells (BSC-1). Roles of Na+/H+ antiport, Na+-HCO3(-)-(NaCO3-) symport, and Cl-/HCO3- exchange.
Interactions of pH and K+ conductance in cultured bovine retinal pigment epithelial cells.
The regulation of intracellular pH in monkey kidney epithelial cells (BSC-1). Roles of Na<sup>+</sup>/H<sup>+</sup> antiport, Na<sup>+</sup>-HCO<inf>3</inf><sup>-</sup>-(NaCO<inf>3</inf><sup>-</sup>) symport, and Cl<sup>-</sup>/HCO<inf>3</inf><sup>-</sup> exchange
Journal of Biological Chemistry 1986
read onlineKinetic properties of the sodium bicarbonate (carbonate) symport in monkey kidney epithelial cells (BSC-1). Interactins between Na<sup>+</sup>, HCO<inf>3</inf><sup>-</sup>, and pH
Journal of Biological Chemistry 1986
read onlineElectrical properties of sodium bicarbonate symport in kidney epithelial cells (BSC-1)
American Journal of Physiology - Renal Fluid and Electrolyte Physiology 1986
read onlineInteractions of pH and K<sup>+</sup> conductance in cultured bovine retinal pigment epithelial cells
American Journal of Physiology - Cell Physiology 1986
read onlineKidney epithelial cells of monkey origin (BSC-1) express a sodium bicarbonate cotransport. Characterization by 22Na+ flux measurements.
Observation of doubly charged triatomic cluster ions in field evaporation
Surface Science 1985
read onlineIon transport mechanisms in cultured bovine corneal endothelial cells
Current Eye Research 1985
read onlineResponse of the intracellular potentials of cultured bovine lens cells to ions and inhibitors.
Ion transport mechanisms in cultured bovine corneal endothelial cells.
Anion dependence of electrical effects of bicarbonate and sodium on cultured bovine corneal endothelial cells.
Kidney epithelial cells of monkey origin (BSC-1) express a sodium bicarbonate cotransport. Characterization by <sup>22</sup>Na<sup>+</sup> flux measurements
Journal of Biological Chemistry 1985
read onlineA bicarbonate-dependent process inhibitable by disulfonic stilbenes and a Na<sup>+</sup>/H<sup>+</sup> exchange mediate <sup>22</sup>Na<sup>+</sup> uptake into cultured bovine corneal endothelium
Journal of Biological Chemistry 1985
read onlineElectrogenic sodium-bicarbonate symport in cultured corneal endothelial cells.
A bicarbonate-dependent process inhibitable by disulfonic stilbenes and a Na+/H+ exchange mediate 22Na+ uptake into cultured bovine corneal endothelium.
Effect of bicarbonate, pH, methazolamide and stilbenes on the intracellular potentials of cultured bovine corneal endothelial cells.
The calcium antagonist nisoldipine stimulates the electrolyte transport of the isolated frog skin.
Evidence for coupled transport of bicarbonate and sodium in cultured bovine corneal endothelial cells.
Copper cluster ions in photon-induced field ionization mass spectra
International Journal of Mass Spectrometry and Ion Physics 1981
read onlineSignal shapes observed in photon-induced field ionization mass spectra
International Journal of Mass Spectrometry and Ion Physics 1981
read onlinePost-field ionization of singly charged rhodium: An experimental and theoretical study
Physical Review B 1981
read onlineEndosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity
Nature Communications 2025
read onlineKCNQ5 Controls Perivascular Adipose Tissue–Mediated Vasodilation
Hypertension 2024
read onlineLRRC8/VRAC volume-regulated anion channels are crucial for hearing
Journal of Biological Chemistry 2024
read onlineGain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease
Journal of Biological Chemistry 2024
read onlineClC-7 drives intraphagosomal chloride accumulation to support hydrolase activity and phagosome resolution
Journal of Cell Biology 2023
read onlineImpaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl−/H+ Exchanger ClC-7
Biomolecules 2023
read onlineGating choreography and mechanism of the human proton-activated chloride channel ASOR
Science Advances 2022
read onlineProton-gated anion transport governs macropinosome shrinkage
Nature Cell Biology 2022
read onlineRenal Deletion of LRRC8/VRAC Channels Induces Proximal Tubulopathy
Journal of the American Society of Nephrology 2022
read onlineCellular basis of ClC-2 Cl− channel–related brain and testis pathologies
Journal of Biological Chemistry 2021
read onlineTransfer of cGAMP into Bystander Cells via LRRC8 Volume-Regulated Anion Channels Augments STING-Mediated Interferon Responses and Anti-viral Immunity
Immunity 2020
read onlineCryo-EM structure of the volume-regulated anion channel LRRC8D isoform identifies features important for substrate permeation
Communications Biology 2020
read onlineA recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl-/H+-exchanger, causes early-onset neurodegeneration
Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism
Nature Communications 2019
read onlineIdentification of TMEM206 proteins as pore of ASOR acid-sensitive chloride channels
Identification of TMEM206 proteins as pore of PAORAC/ASOR acid-sensitive chloride channels
eLife 2019
read onlineCLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease
Physiological Reviews 2018
read onlineA gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
Nature Genetics 2018
read onlineLRRC8/VRAC anion channels enhance β-cell glucose sensing and insulin secretion
Nature Communications 2018
read onlineK <inf>2P</inf> TASK-2 and KCNQ1–KCNE3 K <sup>+</sup> channels are major players contributing to intestinal anion and fluid secretion
Journal of Physiology 2018
read onlineReply from L. P. Cid, T. J. Jentsch and F. V. Sepúlveda: intestinal electrolyte and fluid secretion – a model in trouble?
Journal of Physiology 2018
read onlineDe novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
Molecular Psychiatry 2018
read onlineCa2+-activated Cl−currents in the murine vomeronasal organ enhance neuronal spiking but are dispensable for male-male aggression
Journal of Biological Chemistry 2018
read onlineLRRC8/VRAC anion channels are required for late stages of spermatid development in mice
Journal of Biological Chemistry 2018
read onlineLRRC8 N termini influence pore properties and gating of volume-regulated anion channels (VRACs)
Journal of Biological Chemistry 2018
read onlineThe ClC-K2 chloride channel is critical for salt handling in the distal nephron
Journal of the American Society of Nephrology 2017
read onlineLoss of the Na+/H+ exchanger NHE8 causes male infertility in mice by disrupting acrosome formation
Journal of Biological Chemistry 2017
read onlineSelective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels
Journal of Cell Science 2017
read onlineDe novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Disruption of Kcc2-dependent inhibition of olfactory bulb output neurons suggests its importance in odour discrimination.
The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron.
Inactivation and Anion Selectivity of Volume-Regulated VRAC Channels Depend on Carboxy-Terminal Residues of the First Extracellular Loop.
VRACs and other ion channels and transporters in the regulation of cell volume and beyond.
Inactivation and anion selectivity of volume-regulated anion channels (VRACs) depend on c-terminal residues of the first extracellular loop
Journal of Biological Chemistry 2016
read onlineKCNQ Potassium Channels Modulate Sensitivity of Skin Down-hair (D-hair) Mechanoreceptors.
VRAC: molecular identification as LRRC8 heteromers with differential functions.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
Optogenetic acidification of synaptic vesicles and lysosomes.
Subunit composition of VRAC channels determines substrate specificity and cellular resistance to Pt-based anti-cancer drugs.
Departure gate of acidic Ca²⁺ confirmed.
Discovery of CLC transport proteins: cloning, structure, function and pathophysiology.
KCNQ5 K(+) channels control hippocampal synaptic inhibition and fast network oscillations.
Discovery of CLC transport proteins: cloning, structure, function and pathophysiology.
Stretch-activation of angiotensin II type 1a receptors contributes to the myogenic response of mouse mesenteric and renal arteries.
Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.
Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC.
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.
From mice to man: chloride transport in leukoencephalopathy.
Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Vestibular role of KCNQ4 and KCNQ5 K+ channels revealed by mouse models.
Chloride in vesicular trafficking and function.
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.
Cell biology and physiology of CLC chloride channels and transporters.
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning.
KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.
Enhanced Synaptic Activity and Epileptiform Events in the Embryonic KCC2 Deficient Hippocampus.
Generation and analyses of R8L barttin knockin mouse.
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
Ca2+-activated Cl− currents are dispensable for olfaction.
The CLC family of chloride channels and transporters
Physiology and Pathology of chloride transporters and channels in the nervous system 2010
read onlineSorting motifs of the endosomal/lysosomal CLC chloride transporters.
A cation counterflux supports lysosomal acidification.
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
The KCNQ5 potassium channel mediates a component of the afterhyperpolarization current in mouse hippocampus.
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis.
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.
Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation.
Disruption of the K+ channel beta-subunit KCNE3 reveals an important role in intestinal and tracheal Cl- transport.
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.
Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.
ClC-3--a granular anion transporter involved in insulin secretion?
Potassium ion movement in the inner ear: insights from genetic disease and mouse models.
Residues important for nitrate/proton coupling in plant and mammalian CLC transporters.
Chloride channelopathies.
NKCC1-dependent GABAergic excitation drives synaptic network maturation during early hippocampal development.
Erratum: Comment and reply on: CLC chloride channels and transporters: from genes to protein structure,pathology and physiology (Critical Reviews in Biochemistry and Molecular Biology (2009) 44: 4 (63-64)
Critical Reviews in Biochemistry and Molecular Biology 2009
read onlineTo the editor
Critical Reviews in Biochemistry and Molecular Biology 2009
read onlineLysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.
Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules.
CLC chloride channels and transporters: from genes to protein structure, pathology and physiology.
Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.
Role of the vesicular chloride transporter ClC-3 in neuroendocrine tissue.
Kv7 channels: interaction with dopaminergic and serotonergic neurotransmission in the CNS.
Channelopathies of transepithelial transport and vesicular function.
Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.
Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.
Detection and differentiation of sensorineural hearing loss in mice using auditory steady-state responses and transient auditory brainstem responses.
Leukoencephalopathy upon disruption of the chloride channel ClC-2.
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Kidney-specific upregulation of vitamin D3 target genes in ClC-5 KO mice.
Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.
ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function.
Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.
Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.
Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.
Physiological Functions of the CLC Chloride Transport Proteins
Advances in Molecular and Cell Biology 2006
read onlineChloride channel diseases resulting from impaired transepithelial transport or vesicular function.
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.
CLC chloride channels and transporters.
Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.
Chloride transport in the kidney: lessons from human disease and knockout mice.
Unique structure and function of chloride transporting CLC proteins.
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.
Ion channels: function unravelled by dysfunction.
Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte.
Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models.
Functional and structural conservation of CBS domains from CLC chloride channels.
Expression of the KCl cotransporter KCC2 parallels neuronal maturation and the emergence of low intracellular chloride.
Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.
The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.
Erratum: Molecular structure and physiological function of chloride channels (Physiological Reviews (April 2002) 82 (503-568))
Physiological Reviews 2003
read onlineThe CIC-5 chloride channel knock-out mouse - An animal model for Dent's disease
Pflugers Archiv European Journal of Physiology 2003
read onlineLoss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
Voltage-Gated Ion Channels
Wiley Encyclopedia of Molecular Medicine 2002
read onlineChloride channels are different.
Ion channel diseases.
CLC chloride channels: correlating structure with function.
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.
Molecular structure and physiological function of chloride channels.
Ion channel diseases
Human Molecular Genetics 2002
read onlineDisruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition.
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption.
Tissue distribution and subcellular localization of the ClC-5 chloride channel in rat intestinal cells.
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.
Tissue distribution and subcellular localization of the C1C-5 chloride channel in rat intestinal cells
American Journal of Physiology - Cell Physiology 2001
read onlinePlanned law could put German research at risk [4]
Nature 2001
read onlineAn internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.
Pores formed by single subunits in mixed dimers of different CLC chloride channels.
A constitutively open potassium channel formed by KCNQ1 and KCNE3.
Pathophysiology of KCNQ channels: neonatal epilepsy and progressive deafness.
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
Functional and structural analysis of ClC-K chloride channels involved in renal disease.
Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.
ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.
Neuronal KCNQ potassium channels: physiology and role in disease.
KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.
KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents.
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
From tonus to tonicity: physiology of CLC chloride channels.
Neurological diseases caused by ion-channel mutations.
Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.
Mutations in the a3 subunit of the vacuolar H<sup>+</sup>-ATPase cause infantile malignant osteopetrosis
Human Molecular Genetics 2000
read onlineFrom tonus to tonicity: Physiology of CLC chloride channels
Journal of the American Society of Nephrology 2000
read onlineCharacterization of renal chloride channel (CLCN5) mutations in Dent's disease
Journal of the American Society of Nephrology 2000
read onlineCLC chloride channels in Caenorhabditis elegans.
The CLC chloride channel family.
Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.
Chloride dependence of hyperpolarization-activated chloride channel gates.
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Golgi localization and functionally important domains in the NH2 and COOH terminus of the yeast CLC putative chloride channel Gef1p.
Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions.
Determinants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata.
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
KCNQ2, the first gene found to be mutated in human generalized idiopathic epilepsy,Le KCNQ2 est le premier gene pour lequel une mutation est demontree chez des patients souffrant d'epilepsie generalisee idiopathique
Pathologie Biologie 1998
read onlineDeterminants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata
American Journal of Physiology - Cell Physiology 1998
read onlineMolecular physiology of renal chloride channels.
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells.
Characterization of the hyperpolarization-activated chloride current in dissociated rat sympathetic neurons.
A potassium channel mutation in neonatal human epilepsy.
CLC chloride channels in human disease
FASEB Journal 1997
read onlineLocalization and induction by dehydration of ClC-K chloride channels in the rat kidney
American Journal of Physiology - Renal Physiology 1997
read onlineMolecular dissection of gating in the ClC-2 chloride channel.
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1.
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
Independent gating of single pores in CLC-0 chloride channels.
Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions.
Transmembrane topology of a CLC chloride channel.
Localization and induction by dehydration of ClC-K chloride channels in the rat kidney.
Analysis of a protein region involved in permeation and gating of the voltage-gated Torpedo chloride channel ClC-0.
Chloride channels: an emerging molecular picture.
Temperature dependence of fast and slow gating relaxations of ClC-0 chloride channels.
Chloride channel myotonias
Neuroscientist 1996
read onlineA family of putative chloride channels from Arabidopsis and functional complementation of a yeast strain with a CLC gene disruption.
Concentration and pH dependence of skeletal muscle chloride channel ClC-1.
Heteromultimeric CLC chloride channels with novel properties.
Alteration of GABAA receptor function following gene transfer of the CLC-2 chloride channel.
Two physically distinct pores in the dimeric ClC-0 chloride channel.
Chloride channels: a molecular perspective.
A common molecular basis for three inherited kidney stone diseases.
Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease.
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
Molecular basis of epithelial Cl channels.
Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion.
Myotonias due to CLC-1 chloride channel mutations.
Properties of voltage-gated chloride channels of the ClC gene family.
Myotonias due to CLC-1 chloride channel mutations.
Society of General Physiologists series 1995
read onlineMyotonias due to CLC-1 chloride channel mutations
Journal of General Physiology 1995
read onlineSpectrum of mutations in the major human skeletal muscle chloride channel gene (CLCNI) leading to myotonia
American Journal of Human Genetics 1995
read onlineProperties of voltage‐gated chloride channels of the ClC gene family.
The Journal of Physiology 1995
read onlineChloride channel 2 gene (Clc2) maps to chromosome 16 of the mouse, extending a region of conserved synteny with human chromosome 3q
Genetical Research 1995
read onlineChloride channel 2 gene (Clc2) maps to chromosome 16 of the mouse, extending a region of conserved synteny with human chromosome 3q.
ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.
Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle.
Molecular physiology of voltage-gated chloride channels.
Molecular physiology of anion channels.
Two highly homologous members of the ClC chloride channel family in both rat and human kidney.
Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.
Chapter 2 Molecular Biology of Voltage-Gated Chloride Channels
Chloride Channels 1994
read onlineStructure and function of ClC chloride channels.
The Japanese journal of physiology 1994
read onlineRole of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle
Journal of Biological Chemistry 1994
read onlineNonsense and missense mutations in the muscular chloride channel gene Clc- 1 of myotonic mice
Journal of Biological Chemistry 1994
read onlineMultimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)
EMBO Journal 1994
read onlineMolecular physiology of voltage-gated chloride channels
Physiological Reviews 1994
read onlineGenomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
Trinity of cation channels.
The ClC family of voltage-gated chloride channels: structure and function.
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)
Journal of Medical Genetics 1993
read onlineRecessive and dominant human myotonias are due to mutations of a chloride channel
Biomedicine and Pharmacotherapy 1993
read onlineChloride channels.
Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume.
The skeletal muscle chloride channel in dominant and recessive human myotonia.
A chloride channel widely expressed in epithelial and non-epithelial cells.
Completely functional double-barreled chloride channel expressed from a single Torpedo cDNA.
Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel.
Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.
Cell culture of bovine corneal endothelial cells and its application to transport studies.
Primary structure of a novel 4-acetamido-4'-isothiocyanostilbene-2,2'-disulphonic acid (SITS)-binding membrane protein highly expressed in Torpedo californica electroplax.
Regulation of intracellular pH in cultured bovine retinal pigment epithelial cells.
Regulation of cytoplasmic pH of cultured bovine corneal endothelial cells in the absence and presence of bicarbonate.
Kinetic properties of the sodium bicarbonate (carbonate) symport in monkey kidney epithelial cells (BSC-1). Interactions between Na+, HCO-3, and pH.
Electrical properties of sodium bicarbonate symport in kidney epithelial cells (BSC-1).
The regulation of intracellular pH in monkey kidney epithelial cells (BSC-1). Roles of Na+/H+ antiport, Na+-HCO3(-)-(NaCO3-) symport, and Cl-/HCO3- exchange.
Interactions of pH and K+ conductance in cultured bovine retinal pigment epithelial cells.
The regulation of intracellular pH in monkey kidney epithelial cells (BSC-1). Roles of Na<sup>+</sup>/H<sup>+</sup> antiport, Na<sup>+</sup>-HCO<inf>3</inf><sup>-</sup>-(NaCO<inf>3</inf><sup>-</sup>) symport, and Cl<sup>-</sup>/HCO<inf>3</inf><sup>-</sup> exchange
Journal of Biological Chemistry 1986
read onlineKinetic properties of the sodium bicarbonate (carbonate) symport in monkey kidney epithelial cells (BSC-1). Interactins between Na<sup>+</sup>, HCO<inf>3</inf><sup>-</sup>, and pH
Journal of Biological Chemistry 1986
read onlineElectrical properties of sodium bicarbonate symport in kidney epithelial cells (BSC-1)
American Journal of Physiology - Renal Fluid and Electrolyte Physiology 1986
read onlineInteractions of pH and K<sup>+</sup> conductance in cultured bovine retinal pigment epithelial cells
American Journal of Physiology - Cell Physiology 1986
read onlineKidney epithelial cells of monkey origin (BSC-1) express a sodium bicarbonate cotransport. Characterization by 22Na+ flux measurements.
Observation of doubly charged triatomic cluster ions in field evaporation
Surface Science 1985
read onlineIon transport mechanisms in cultured bovine corneal endothelial cells
Current Eye Research 1985
read onlineResponse of the intracellular potentials of cultured bovine lens cells to ions and inhibitors.
Ion transport mechanisms in cultured bovine corneal endothelial cells.
Anion dependence of electrical effects of bicarbonate and sodium on cultured bovine corneal endothelial cells.
Kidney epithelial cells of monkey origin (BSC-1) express a sodium bicarbonate cotransport. Characterization by <sup>22</sup>Na<sup>+</sup> flux measurements
Journal of Biological Chemistry 1985
read onlineA bicarbonate-dependent process inhibitable by disulfonic stilbenes and a Na<sup>+</sup>/H<sup>+</sup> exchange mediate <sup>22</sup>Na<sup>+</sup> uptake into cultured bovine corneal endothelium
Journal of Biological Chemistry 1985
read onlineElectrogenic sodium-bicarbonate symport in cultured corneal endothelial cells.
A bicarbonate-dependent process inhibitable by disulfonic stilbenes and a Na+/H+ exchange mediate 22Na+ uptake into cultured bovine corneal endothelium.
Effect of bicarbonate, pH, methazolamide and stilbenes on the intracellular potentials of cultured bovine corneal endothelial cells.
The calcium antagonist nisoldipine stimulates the electrolyte transport of the isolated frog skin.
Evidence for coupled transport of bicarbonate and sodium in cultured bovine corneal endothelial cells.
New techniques in surface specific mass analysis by photon induced field desorption
International Journal of Mass Spectrometry and Ion Physics 1983
read onlineStability of doubly charged homonuclear trimeric metal clusters
Chemical Physics Letters 1982
read onlineCopper cluster ions in photon-induced field ionization mass spectra
International Journal of Mass Spectrometry and Ion Physics 1981
read onlineSignal shapes observed in photon-induced field ionization mass spectra
International Journal of Mass Spectrometry and Ion Physics 1981
read onlinePost-field ionization of singly charged rhodium: An experimental and theoretical study
Physical Review B 1981
read onlineCl− Channels and Cl−/H+ Exchangers
Encyclopedia of Molecular Pharmacology
read online
The Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) is part of the Forschungsverbund Berlin e.V. (FVB), which legally represents seven non-university research institutes - members of the Leibniz Association - in Berlin.
Leibniz-Forschungsinstitut für Molekulare Pharmakologie im Forschungsverbund Berlin e.V. (FMP)
Campus Berlin-Buch
Robert-Roessle-Str. 10,
13125 Berlin, Germany
