Selected original publications

Polovitskaya M.M.^#, Rana T.^#, Ullrich K., Murko S., Bierhals T., Vogt G., Stauber T., Kubisch C., Santer R.*, Jentsch T.J.* (2024)
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
J. Biol. Chem 300, 107437.
Pubmed  pdf  Suppl. Info 

Knecht D.A.^#, Zeziulia M.^#, Bhavsar M.B., Puchkov D., Maier H., Jentsch T.J.* (2024)
LRRC8/VRAC volume-regulated anion channels are crucial for hearing.
J. Biol. Chem 300, 107436.
Pubmed  pdf  Suppl. Info 

Zhang B.^#, Zhang S.^#, Polovitskaya M.M.^#, Yi J.^#, Ye B.^#, ..., Tartaglia M.*, Li Y.*, Jentsch T.J.*, Yang M.*, Liu Z.* (2023)
Molecular basis of ClC-6 function and its impairment in human disease.
Science Advances 9, eadg4479.
Pubmed  pdf  Suppl. Info 

Liu H.^#, Polovitskaya M.M.^#, Yang L., Li M., Li H., Han Z., Wu J., Zhang Q., Jentsch T.J.^*, Liao J.* (2023)
Structural insights into anion selectivity and activation mechanism of LRRC8 volume-regulated anion channels.
Cell Reports 42:112926.
Pubmed  pdf  Suppl. Info 

Wu J. Z., Zeziulia M., Kwon W., Jentsch T.J., Grinstein S., Freeman S.A. (2023).
ClC-7 drives intraphagosomal chloride accumulation to support hydrolase activity and phagosome resolution.
J. Cell Biol. 2023 Vol. 222 No. 6 e202208155.
Pubmed  pdf

Pfau A., L
ópez-Cayuqueo K.I., ..., Jentsch T.J., Knauf F. (2023).
SLC26A1 is a major determinant of sulfate homeostasis in humans.
J. Clin. Invest. 133(3):e161849.
Pubmed  pdf

L
ópez-Cayuqueo K.I., Planells-Cases R., Pietzke M., Oliveras A., Kempa S., Bachmann S., Jentsch T.J. (2022).
Renal Deletion of LRRC8/VRAC Channels Induces Proximal Tubulopathy.
J. Am. Soc. Nephrol. 33:1528–1545.
Pubmed  pdf  Suppl. Info  Editorial

Zeziulia M., Blin S.,Schmitt F.W., Lehmann M., Jentsch T.J. (2022).
Proton-gated anion transport governs macropinosome shrinkage.
Nature Cell Biol. 24(6), 885-895.
Pubmed  pdf  Suppl. Info  Movie 1  Movie 2  Movie 3  Commentary

Wang C.#, Polovitskaya M.M.#, Delgado B.D., Jentsch T.J.*, Long S.B.* (2022).
Gating choreography and mechanism of the human proton-activated chloride channel ASOR.
Science Advances 8, eabm3942.
Pubmed  pdf  Suppl. Info  Movie1 & Movie2

Gao X., Bender F., Soh H., Chen C., Altafi M., Schütze S., Heidenreich M., Gorbati M.,Corbu M-A., Carus-Cadavieco M., Korotkova T., Tzingounis A.V., Jentsch T.J.*, Ponomarenko A.* (2021).
Place fields of single spikes in hippocampus involve Kcnq3 channel-dependent entrainment of complex spike bursts.
Nature Commun. 12, 4801.
Pubmed  pdf  Suppl.Info  OMIM

Duncan A.R. #, Polovitskaya M.M. #, Gaitán-Peñas H., Bertelli S., VanNoy G.E., .... Estévez R., Jentsch T.J. *, Pusch M., Agrawal P.B. * (2021).
Unique variants in CLCN3, encoding an endosomal proton/anion exchanger, underlie a spectrum of neurodevelopmental disorders.
Am. J. Hum. Genet. 108, 1-16.
Pubmed  pdf  Suppl. Info  OMIM

Göppner C., Soria A.H., Hoegg-Beiler M.B., Jentsch T.J. (2021).
Cellular basis of ClC-2 Cl^- channel-related  brain and testis pathologies.
J. Biol. Chem 296, 100074.
Pubmed  pdf  Suppl. Info  OMIM

Polovitskaya M.M., Barbini C., Martinelli D., Harms F.L., Cole F.S., Calligari P., Bocchinfuso G., Stella L., Ciolfi A., Niceta M., Rizza T., Shinawi M., Sisco K., Johannsen J., Denecke J., Carrozzo R., Wegner D.J., Kutsche K., Tartaglia M., Jentsch T.J. (2020). 
A recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl^-/H⁺-exchanger, causes early-onset neurodegeneration.
Am. J. Hum. Genet.107, 1062-1077.
Pubmed  pdf  Suppl. Info  OMIM

Zhou C., Chen X., Planells-Cases R., Chu J., Wang L., Cao L., Li Z., López-Cayuqueo K.I., Xie Y., Ye S., Wang X., Ullrich F., Ma S., Fang Y., Zhang X., Qian Z., Liang X., Cai S., Jiang Z., Zhou D., Leng Q., Xiao T.S., Lan K., Yang J., Li H., Peng C., Qiu Z., Jentsch T.J., Xiao H. (2020).
Transfer of cGAMP into bystander cells by LRRC8 volume regulated anion channels augments STING-mediated interferon responses and antiviral immunity.
Immunity 52, 767-781.
Pubmed  pdf  Suppl. Info  Perspective

Weinert S., Gimber N., Deuschel D., Stuhlmann T., Puchkov D., Farsi Z., Ludwig C.F., Novarino G., López-Cayuqueo K.I., Planells-Cases R., Jentsch T.J. (2020).
Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration.
EMBO J. 39: e103358.
Pubmed  pdf  Expanded View  Appendix  News and Views

Göppner C., Orozco I.J., Hoegg-Beiler M.B., Soria A.H., Hübner C.A., Fernandes-Rosa F.L., Boulkroun S., Zennaro M.C., Jentsch T.J. (2019).
Pathogenesis of hypertension in a mouse model for CLCN2-related hyperaldosteronism.
Nature Comm., 10:4678.
Pubmed  pdf  Suppl. Info  Video1 Video 2 F1000   https://rdcu.be/bUkql  

Ullrich F., Blin S., Lazarow K., Daubitz T., von Kries J.P., Jentsch T.J. (2019).
Identification of TMEM206 proteins as pore of PAORAC/ASOR acid-sensitive chloride channels.
eLife 8:e49187.   DOI: doi.org/10.7554/eLife.49187.001
Pubmed  pdf

Zhou P., Polovitskaya M.M., Jentsch T.J. (2018).
LRRC8 amino-termini influence pore properties and gating of volume-regulated VRAC anion channels.
J. Biol. Chem. 293, 13440-13451.
Pubmed  pdf

Lück J.C., Puchkov D., Ullrich F., Jentsch T.J. (2018).
LRRC8/VRAC anion channels are required for late stages of spermatid development in mice.
J. Biol. Chem. 293, 11796-11808.
Pubmed  pdf

Stuhlmann T., Planells-Cases R., Jentsch T.J. (2018).
LRRC8/VRAC anion channels enhance β-cell glucose sensing and insulin secretion.
Nature Comm. 9, 1974.
Pubmed  pdf  Suppl. Info

Münch J., Billig G., Hübner C.A., Leinders-Zufall T., Zufall F., Jentsch T.J. (2018).
Ca²⁺-activated Cl^- currents in the murine vomeronasal organ enhance neuronal spiking but are dispensable for male-male aggression.
J. Biol. Chem. 293, 10392-10403.
Pubmed  pdf  Suppl. Info

Fernandes-Rosa F.L., Daniil G., Orozco I.J., Göppner C., El Zein R., Jain V., Boulkroun S., Jeunemaitre X., Amar L., Lefebvre H., Schwarzmayr T., Strom T.M., Jentsch T.J *., Zennaro M.C.* (2018).
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Nature Genetics 50, 355-361.
Pubmed  pdf  Suppl. Info  Research Highlight Nature Rev Nephrol  Faculty 1000

Oberheide K. Puchkov D., Jentsch T.J. (2017).
Loss of the Na⁺/H⁺ exchanger NHE8 causes male infertility by disrupting acrosome formation.
J. Biol. Chem.  292, 10845-10854.
Pubmed  pdf

Lutter D., Ullrich F., Lueck J.C., Kempa S., Jentsch T.J. (2017).
Selective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels.
J. Cell Sci. 130, 1122-1133.
Pubmed  pdf incl. Suppl. Info

Gödde K., Gschwend O., Puchkov D., Pfeffer C.K., Carleton A., Jentsch T.J. (2016).
Disruption of Kcc2-dependent inhibition of olfactory bulb output neurons suggests its importance in odour discrimination.
Nature Comm. 7, 12043.
Pubmed  pdf  Suppl. Info  Faculty 1000

Ullrich F., Reincke S.M., Voss F.K., Stauber T., Jentsch T.J. (2016).
Inactivation and anion selectivity of volume-regulated VRAC channels depend on carboxy-terminal residues of the first extracellular loop.
J. Biol. Chem., 291, 17040-17048.
Pubmed  pdf

Schütze S., Orozco I.J., Jentsch T.J. (2016).
KCNQ potassium channels modulate sensitivity of skin D-hair mechanoreceptors.
J. Biol. Chem. 291, 5566-5575.
Pubmed  pdf

Planells-Cases R., Lutter D., Guyader C., Gerhards N.M., Ullrich F., Elger D.A., Kucukosmanoglu A, Xu G., Voss F.K., Reincke S.M., Stauber T., Blomen V.A., Vis D.J., Wessels L.F., Brummelkamp T.R., Borst P., Rottenberg S., Jentsch T.J. (2015).
VRAC channel composition determines its substrate specificity and cellular resistance to Pt-based anti-cancer drugs.
EMBO J. 34, 2993-3008.
Pubmed  pdf   Expanded View   Appendix  merged pdf  News and Views

Rost B.R., Schneider F., Grauel M.K., Wozny C., Bentz C.G., Blessing A., Rosenmund T., Jentsch T.J., Schmitz D., Hegemann P., Rosenmund C. (2015).
Optogenetic acidification of synaptic vesicles and lysosomes.
Nature Neurosci. 18, 1845-1852.
Pubmed  pdf

Fidzinski P., Korotkova T.,  Heidenreich M., Maier N., Schuetze S., Kobler O., Zuschratter W., Schmitz D., Ponomarenko A., Jentsch T.J. (2015).
KCNQ5 K⁺ channels control hippocampal synaptic inhibition and fast network oscillations.
Nature Commun. 6, 6254 DOI: 10.1038/ncomms7254
Pubmed  pdf  Suppl. Info

Weinert S., Jabs S., Hohensee S., Chan W.L., Kornak U., Jentsch T.J. (2014).
Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.
EMBO Rep. 15, 784-791.
Pubmed  pdf  Suppl. Info

Voss F.K., Ullrich F., Münch J., Lazarow K., Lutter D., Mah N., Andrade-Navarro M.A., von Kries J.P., Stauber T., Jentsch T.J. (2014).
Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC.
Science  244, 634-638. (published as Express on April 10)
Pubmed  pdf  Suppl. Info  merged pdf  Highlight (Nature Rev Cell Mol Biol) 

Hoegg-Beiler M.B., Sirisi S., Orozco I.J., Ferrer I., Hohensee S., Auberson M., Gödde K., Vilches C., López de Heredia M., Nunes V., Estévez R., Jentsch T.J. (2014).
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
Nature Commun. 5: 3475 doi: 10.1038/ncomms4475.
Pubmed  pdf

Ludwig C.F., Ullrich F., Leisle L., Stauber T., Jentsch T.J. (2013).
Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl^-/1H⁺-exchanger ClC-7/Ostm1.
J. Biol. Chem. 288, 28611-28619.
Pubmed  pdf

Spitzmaul G., Tolosa L., Winkelman B.H.J., Heidenreich M., Frens M.A., Chabbert C., de Zeeuw C.I., Jentsch T.J. (2013).
Vestibular role of KCNQ4 and KCNQ5 K⁺ channels revealed by mouse models.
J. Biol. Chem. 288, 9334-9344.
Pubmed  pdf  Suppl. Info

Jeworutzky E., López-Hernández, T., Capdevila-Nortes X., Sirisi S., Bengtsson L., Montolio M., Zifarelli G., Müller C.S., Schulte U., Nunes V., Martínez A., Jentsch T.J., Gasull X., Pusch M., Estévez R. (2012).
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl- channel auxilliary subunit.
Neuron 73, 951-961.
Pubmed  pdf  Suppl. Info  Perspective

Seja P., Schonewille M., Spitzmaul G., Badura A., Klein I., Rudhard Y., Wisden W., Hübner C.A., de Zeuw C.I., Jentsch T.J. (2012).
Raising cytosolic Cl- in cerebellar granule cells affects their excitability and vestibulo-ocular learning.
EMBO J. 31,1217-1230.
Pubmed  pdf  Suppl. Info

Heidenreich M., Lechner S.G., Vardanyan V., Wetzel C., Cremers C.W., De Lenheer E.M., Aránguez G., Moreno-Pelayo M.A., Jentsch T.J., Lewin G.R. (2012).
KCNQ4 K⁺channels tune mechanoreceptors for normal touch sensation in mouse and man.
Nature Neurosci.15, 138-145.
Pubmed  pdf  Suppl. Info  Suppl. Video  News & Views  News comment

Billig G.M., Pál B., Fidzinski P., Jentsch T.J. (2011).
Ca²⁺-activated Cl^- currents are dispensable for olfaction.
Nature Neurosci 14, 763-749.
Pubmed  pdf  Suppl. Info  

Leisle L., Ludwig C.F., Wagner, F.A., Jentsch, T.J., Stauber T. (2011).
ClC-7 is a slowly voltage-gated 2Cl^-/H⁺ exchanger and requires Ostm1 for transport activity.
EMBO J. 30, 2140-2152.
Pubmed  pdf  Suppl. Info  Suppl. Video

Stauber T., Jentsch T.J. (2010).
Sorting motifs in the endosomal/lysosomal CLC chloride transporters.
J. Biol. Chem. 285, 34537-34548.
Pubmed  pdf  Suppl. Info

Steinberg B.E., Huynh K.K., Brodovitch A., Jabs S., Stauber T., Jentsch T.J., Grinstein S. (2010).
A cation counterflux supports lysosomal acidification.
J. Cell Biol. 189, 1171-1186.
Pubmed  pdf  Suppl. Info  Highlight

Weinert S., Jabs S., Supanchart C., Schweizer M., Gimber N., Richter M., Rademann J., Stauber T., Kornak U., Jentsch T.J. (2010).
Lysosomal pathology and osteopetrosis upon loss of H⁺-driven lysosomal Cl^- accumulation.
Science 328, 1401-1403.   
Pubmed  pdf  Suppl. Info  Perspective

Novarino G., Weinert S., Rickheit G., Jentsch T.J. (2010).
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis.
Science 328, 1398-1401.
Pubmed  pdf  Suppl. Info  Perspective  Comment in NDT

Neagoe I., Stauber T., Fidzinski P., Bergsdorf E.-Y., Jentsch T.J. (2010).
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
J. Biol. Chem. 285, 21689-21697.
Pubmed  pdf  Suppl. Info

Tzingounis A.V., Heidenreich M., Kharkovets T., Spitzmaul G., Jensen H.S., Nicoll R.A., Jentsch T.J. (2010).
The KCNQ5 potassium channel mediates a component of the afterhyperpolarization current in mouse hippocampus.
Proc. Natl. Acad. Sci USA 107, 10232-10237.
Pubmed  pdf  Suppl. Info

Rickheit G., Wartosch L., Schaffer S., Stobrawa S.M., Novarino G., Weinert S., Jentsch, T.J. (2010).
Role of ClC-5 in renal endocytosis is unique among CLC exchangers and does not require PY-motif-dependent ubiquitylation.
J. Biol Chem. 285, 17595-17603.
Pubmed  pdf  Suppl. Info

Preston P., Wartosch L., Günzel D., Fromm M., Kongsuphol P., Ousingsawat J., Kunzelmann K., Barhanin J., Warth R., Jentsch, T.J. (2010).
Disruption of the K⁺ channel β-subunit KCNE3 reveals an important role in intestinal and tracheal Cl^- transport.
J. Biol Chem. 285, 7165-7175.
Pubmed  pdf  Suppl. Info

Wartosch L., Fuhrmann J.C., Schweizer M., Stauber T., Jentsch T.J. (2009).
Lysosomal degradation of endocytosed protein depends on the chloride transport protein ClC-7.
FASEB J. 23, 4056-4068.
Pubmed  pdf  Suppl. Info

Bergsdorf E-Y, Zdebik A.A., Jentsch T.J. (2009).
Residues important for nitrate/proton coupling in plant and mammalian CLC transporters.
J. Biol. Chem. 284, 11184-11193. 
Pubmed  pdf

Pfeffer C.K., Stein V., Keating D.J., Maier H., Rinke I., Rudhard Y., Hentschke M., Rune G., Jentsch T.J., Hübner C.A. (2009).
NKCC1-dependent GABArgic excitation drives synpatic network maturation during early hippocampal development.
J. Neurosci. 29, 3419-3430.
Pubmed  pdf  Suppl. Info

Rickheit G., Maier H., Strenzke N., Andreescu C.E., De Zeeuw C.I., Zdebik A.A., Jentsch T.J. (2008).
Endocochlear potential depends on Cl^- channels: mechanism underlying deafness in Bartter syndrome IV.
EMBO J. 27, 2907-2917.
Pubmed  pdf  Suppl. Info  OMIM

Maritzen T., Keating D.J., Neagoe I., Zdebik A.A., Jentsch T.J. (2008).
Role of the vesicular chloride transporter ClC-3 in neuroendocrine tissue.
J. Neurosci. 28, 10587-10598 
Pubmed  pdf  Suppl. Info
 
Zdebik A.A., Zifarelli G., Bergsdorf E.-Y., Soliani P., Scheel O., Jentsch T.J., Pusch M. (2008).
Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
J. Biol. Chem. 283, 4219-4227.
Pubmed  pdf  Suppl. Info

Blanz J., Schweizer M., Auberson M., Maier H., Muenscher A., Hübner C.A.,  Jentsch T.J. (2007).
Leukoencephalopathy upon disruption of the chloride channel ClC-2.
J. Neurosci. 27, 6581-6589.
Pubmed  pdf  Suppl. Info  

Rust M.B., Alper S.L., Rudhard Y., Shmukler B.E., Vicente R., Brugnara C.,  Trudel M.,  Jentsch T.J., Hübner C.A. (2007).
Disruption of erythroid KCl-cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.
J. Clin. Invest. 117, 1708-1717.
Pubmed  pdf  Suppl. Info  

Poët M., Kornak U., Schweizer M., Zdebik A.A., Scheel O., Hoelter S., Wurst W., Schmitt A., Fuhrmann J.C., Planells-Cases R., Mole S.E., Hübner C.A., Jentsch T.J. (2006).
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Proc. Natl. Acad. Sci. U S A. 103, 13854-13859.
Pubmed  pdf

Lange P.F., Wartosch L., Jentsch T.J., Fuhrmann J.C. (2006).
ClC-7 requires Ostm1 as a β-subunit to support bone resorption and lysosomal function.
Nature  440, 220-223.
Pubmed  pdf  Suppl. Info  OMIM

Kharkovets T., Dedek K., Maier H., Schweizer M., Khimich D., Nouvian R., Vardanyan V., Leuwer R., Moser T., Jentsch T.J. (2006).
Mice with altered KCNQ4 K⁺ channels implicate sensory outer hair cells in human progressive deafness.
EMBO J.  25, 642-652.
Pubmed  pdf  Suppl. Info  OMIM

Rust M.B., Faulhaber J., Budack M.K.,   Pfeffer C., Maritzen T., Didié M., Beck F.X., Boettger T., Schubert R., Ehmke H., Jentsch T.J., Hübner C.A. (2006).
Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3.
Circ. Res. 98 , 549-556.
Pubmed  pdf

Scheel O., Zdebik A.A., Lourdel S., Jentsch T.J. (2005).
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.
Nature 436, 424-427.
Pubmed  pdf

Schenzer A., Friedrich T., Pusch M., Saftig P, Jentsch T.J., Grötzinger J., Schwake M. (2005).
Molecular determinants of KCNQ (Kv7) K⁺ channel sensitivity to the anticonvulsant retigabine.
J. Neurosci. 25, 5051-5060.
Pubmed  pdf

Kasper D., Planells-Cases R., Fuhrmann J.C., Scheel O., Zeitz O., Ruether K., Schmitt A., Poët M., Steinfeld R., Schweizer M., Kornak U., Jentsch T.J. (2005).
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
EMBO J.  24, 1079-1091.
Pubmed  pdf  Suppl. Info  OMIM

Zdebik A.A., Cuffe J., Bertog M., Korbmacher C., Jentsch T.J. (2004).
Additional disruption of the ClC-2 Cl^- channel does not exacerbate the cystic fibrosis phenotype of CFTR mouse models.
J. Biol. Chem. 279,  22276-22283.
Pubmed  pdf

Estévez R., Pusch M., Ferrer-Costa C., Orozco M., Jentsch T.J. (2004).
Functional and structural conservation of CBS domains from CLC chloride channels.
J. Physiol. 557.2, 363-378.
Pubmed  pdf

Boettger T., Rust M.B., Maier H., Seidenbecher T., Schweizer M., Keating D., Faulhaber J., Ehmke H., Pfeffer C., Scheel O., Lemcke B., Host J., Leuwer R., Pape H.C., Völkl H., Hübner C.A., Jentsch T.J. (2003).
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
EMBO J. 22, 5422-5434.
Pubmed  pdf  Suppl. Info

Estévez R., Schroeder B.C., Accardi A., Jentsch T.J., Pusch M. (2003).
Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
Neuron 38, 47-59.
Pubmed  pdf  Neuron Preview

Schwake M., Jentsch T.J., Friedrich T. (2003).
A carboxy-terminal domain determines the subunit specificity of KCNQ K⁺ channel assembly.
EMBO Rep.  4, 76-81.
Pubmed  pdf

Boettger T., Hübner C.A., Maier H., Rust M.B., Beck F.X., Jentsch T.J. (2002).
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter KCC4.
Nature  416, 874-878.
Pubmed  pdf  Suppl. Info

Estévez R., Boettger T., Stein V., Birkenhäger R., Otto E., Hildebrandt F., Jentsch T.J. (2001).
Barttin is a Cl^- channel ß-subunit crucial for renal Cl^- reabsorption and inner ear K⁺ secretion.
Nature  414, 558-561.
Pubmed  pdf  Suppl. Info  News and Views  OMIM  

Dedek K., Kunath B., Kananura C., Reuner U., Jentsch T.J., Steinlein O. (2001)
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K⁺ channel.
Proc. Natl. Acad. Sci. U.S.A. 98, 12272-12277.
Pubmed  pdf  OMIM

Betz R.C., Schoser B.G., Kasper D., Ricker K., Ramírez A., Stein V., Torbergsen T., Lee Y.A., Nothen M.M., Wienker T.F., Malin J.P., Propping P.,  Reis A., Mortier W., Jentsch T.J., Vorgerd M., Kubisch C. (2001)
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Nature Genet. 28, 218-219.
Pubmed  pdf  OMIM

Hübner C.A., Stein V., Hermans-Borgmeyer I., Meyer T., Ballanyi K., Jentsch T.J. (2001)
Disruption of KCC2 reveals an essential role of K-Cl-cotransport already in early synaptic inhibition.
Neuron 30, 515-524.
Pubmed  pdf

Bösl M.R., Stein V., Hübner C., Zdebik A.A., Jordt S.E., Mukhophadhay A.K.,  Davidoff M.S., Holstein A.F., Jentsch T.J. (2001)
Male germ cells and photoreceptors, both depending on close cell-cell interactions, degenerate upon ClC-2 Cl^--channel disruption.
EMBO J. 20, 1289-1299.
Pubmed  pdf

Kornak U., Kasper D., Bösl M.R., Kaiser E., Schweizer M., Schulz A., Friedrich W., Delling G., Jentsch T.J. (2001)
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Cell 104, 205-215.
Pubmed  pdf  Nature News & Views  OMIM

Stobrawa S.M., Breiderhoff T., Takamori S., Engel D., Schweizer M., Zdebik A.A., Bösl M.R., Ruether K., Jahn H., Draguhn A., Jahn R., Jentsch T.J. (2001)
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.
Neuron 29, 185-196.
Pubmed  pdf  Neuron Preview  Nature Rev Neurosci Highlight

Schwake M., Friedrich T., Jentsch T.J. (2001)
An internalization signal in ClC-5, an endosomal Cl^--channel mutated in Dent's disease.
J. Biol. Chem. 276, 12049-12054.
Pubmed  pdf

Weinreich F., Jentsch T.J. (2001)
Pores formed by single subunits in mixed dimers of different CLC chloride channels.
J. Biol. Chem. 276,  2347-2353.
Pubmed  pdf

Piwon N., Günther W., Schwake M., Bösl M.R., Jentsch T.J. (2000)
ClC-5 Cl^--channel disruption impairs endocytosis in a mouse model for Dent's disease.
Nature 408, 369-373.
Pubmed  pdf  Suppl. Info  OMIM  

Kornak U., Schulz A., Friedrich W., Uhlhaas S., Kremens B., Voit T., Hasan C., Bode U., Jentsch T.J., Kubisch C. (2000)
Mutations in the a3 subunit of the vacuolar H⁺-ATPase cause infantile malignant osteopetrosis.
Hum. Mol. Genet. 13, 2059-2063.
Pubmed  pdf  OMIM

Waldegger S., Jentsch T.J. (2000)
Functional and Structural Analysis of ClC-K Chloride Channels Involved in Renal Disease.
J. Biol. Chem. 275, 24257-24533.
Pubmed  pdf

Schroeder B.C., Hechenberger M., Weinreich F., Kubisch C.,  Jentsch T.J. (2000)
KCNQ5, a Novel Potassium Channel Broadly Expressed in Brain, Mediates M-type Currents.
J. Biol. Chem. 275, 24089-24095.
Pubmed  pdf

Kharkovets T., Hardelin J.-P., Safieddine S., Schweizer M., El-Amraoui A., Petit C., Jentsch T.J. (2000)
KCNQ4, a K⁺ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.
Proc. Natl. Acad. Sci. U.S.A. 97, 4333-4338.
Pubmed  pdf  Commentary

Schroeder B.C., Waldegger S., Fehr S., Bleich M., Warth R., Greger R., Jentsch T.J. (2000)
A constitutively open potassium channel formed by KCNQ1 and KCNE3.
Nature 403, 196-199.
Pubmed  pdf  Suppl. Info  Comment in TIPS  

Schriever A.M., Friedrich T., Pusch M., Jentsch T.J. (1999)
CLC chloride channels in Caenorhabditis elegans.
J. Biol. Chem. 274, 34238-34244.
Pubmed  pdf

Kubisch C., Schroeder B.C., Friedrich T., Lütjohann B., El-Amraoui A., Marlin S., Petit C., Jentsch T.J. (1999)
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
Cell 96, 437-446.
Pubmed  pdf  OMIM

Friedrich T., Breiderhoff T., Jentsch T.J. (1999)
Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.
J. Biol. Chem. 274, 896-902.
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Schroeder B. C., Kubisch C., Stein V., Jentsch T. J. (1998)
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K⁺ channels causes epilepsy.
Nature 396, 687-690.
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Günther W., Lüchow A., Cluzeaud F., Vandewalle A., Jentsch T.J. (1998)
ClC-5, the chloride channel mutated in Dent's disease, co-localizes with the proton pump in endocytotically active kidney cells.
Proc. Natl. Acad. Sci. U.S.A. 95,8075-8080.
Pubmed  pdf  Commentary