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XB-GENEPAGE-950793
Papers associated with clcn3
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders., Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB., Am J Hum Genet. August 5, 2021; 108 (8): 1450-1465. |
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Cloning and characterisation of amphibian ClC-3 and ClC-5 chloride channels., Schmieder S, Lindenthal S, Ehrenfeld J., Biochim Biophys Acta. November 13, 2002; 1566 (1-2): 55-66.  |
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ClC-3 is a fundamental molecular component of volume-sensitive outwardly rectifying Cl- channels and volume regulation in HeLa cells and Xenopus laevis oocytes., Hermoso M, Satterwhite CM, Andrade YN, Hidalgo J, Wilson SM, Horowitz B, Hume JR., J Biol Chem. October 18, 2002; 277 (42): 40066-74. |
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Tissue-specific N-glycosylation of the ClC-3 chloride channel., Schmieder S, Lindenthal S, Ehrenfeld J., Biochem Biophys Res Commun. August 24, 2001; 286 (3): 635-40. |
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Functional inhibition of native volume-sensitive outwardly rectifying anion channels in muscle cells and Xenopus oocytes by anti-ClC-3 antibody., Duan D, Zhong J, Hermoso M, Satterwhite CM, Rossow CF, Hatton WJ, Yamboliev I, Horowitz B, Hume JR., J Physiol. March 1, 2001; 531 (Pt 2): 437-44. |
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Molecular cloning of CLC chloride channels in Oreochromis mossambicus and their functional complementation of yeast CLC gene mutant., Miyazaki H, Uchida S, Takei Y, Hirano T, Marumo F, Sasaki S., Biochem Biophys Res Commun. February 5, 1999; 255 (1): 175-81. |
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Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents., Friedrich T, Breiderhoff T, Jentsch TJ., J Biol Chem. January 8, 1999; 274 (2): 896-902. |
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Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease., Steinmeyer K, Schwappach B, Bens M, Vandewalle A, Jentsch TJ., J Biol Chem. December 29, 1995; 270 (52): 31172-7. |
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Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein., Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A., Genomics. May 1, 1995; 27 (1): 131-41. |
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ClC family in the kidney., Sasaki S, Uchida S, Kawasaki M, Adachi S, Marumo F., Jpn J Physiol. January 1, 1994; 44 Suppl 2 S3-8. |
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