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Summary Expression Phenotypes Gene Literature (40) GO Terms (12) Nucleotides (167) Proteins (59) Interactants (32) Wiki
XB--5957240

Papers associated with clcn5 (and Disease Ontology)



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A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification., Bignon Y, Alekov A, Frachon N, Lahuna O, Jean-Baptiste Doh-Egueli C, Deschênes G, Vargas-Poussou R, Lourdel S., Hum Mutat. August 1, 2018; 39 (8): 1139-1149.

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit., Jeworutzki E, López-Hernández T, Capdevila-Nortes X, Sirisi S, Bengtsson L, Montolio M, Zifarelli G, Arnedo T, Müller CS, Schulte U, Nunes V, Martínez A, Jentsch TJ, Gasull X, Pusch M, Estévez R., Neuron. March 8, 2012; 73 (5): 951-61.                

ATP induces conformational changes in the carboxyl-terminal region of ClC-5., Wellhauser L, Luna-Chavez C, D'Antonio C, Tainer J, Bear CE., J Biol Chem. February 25, 2011; 286 (8): 6733-41.

Proton block of the CLC-5 Cl-/H+ exchanger., Picollo A, Malvezzi M, Accardi A., J Gen Physiol. June 1, 2010; 135 (6): 653-9.        

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization., Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S., Hum Genet. July 1, 2005; 117 (2-3): 228-37.

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