Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1-Reference-Cited by-同舟云学术

Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1

Published:2021-03 Issue:5 Volume:42 Page:537-550
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sakhi Imène¹²,Bignon Yohan³^ORCID,Frachon Nadia¹²,Hureaux Marguerite⁴,Arévalo Bárbara⁵,González Wendy⁵⁶,Vargas‐Poussou Rosa¹²⁴,Lourdel Stéphane¹²^ORCID

Affiliation:

1. Laboratoire Physiologie Rénale et Tubulopathies, Centre de Recherche des Cordeliers INSERM, Sorbonne Université, Université de Paris Paris France

2. CNRS ERL 8228 Paris France

3. Centre Universitaire des Saints Pères INSERM, Université Paris Descartes Paris France

4. Département de génétique, Assistance Publique‐Hôpitaux de Paris Hôpital Européen Georges Pompidou Paris France

5. Center for Bioinformatics and Molecular Simulations (CBSM), Universidad de Talca Talca Chile

6. Millennium Nucleus of Ion Channels‐Associated Diseases (MiNICAD) Universidad de Talca Talca Chile

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24184

Reference57 articles.

1. Biased Probability Monte Carlo Conformational Searches and Electrostatic Calculations for Peptides and Proteins

2. Mutations associated with Dent's disease affect gating and voltage dependence of the human anion/proton exchanger ClC-5

3. Molecular effect of a novel missense mutation, L266V, on function of ClC‐5 protein in a Japanese patient with Dent's disease;Ashida A.;Clinical Nephrology,2014

4. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

5. A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification

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