CLC chloride channels and transporters: structure, function, physiology, and disease

TJ Jentsch, M Pusch - Physiological reviews, 2018 - journals.physiology.org
CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Dent's disease

O Devuyst, RV Thakker - Orphanet journal of rare diseases, 2010 - Springer
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule
dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis …

[PDF][PDF] Cell biology and physiology of CLC chloride channels and transporters

T Stauber, S Weinert, TJ Jentsch - Comprehensive Physiology, 2012 - academia.edu
Proteins of the CLC gene family assemble to homo-or sometimes heterodimers and either
function as Cl–channels or as Cl–/H+-exchangers. CLC proteins are present in all phyla …

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon

L Gianesello, D Del Prete, F Anglani, LA Calò - Human genetics, 2021 - Springer
Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its
phenotypic heterogeneity has led to several different classifications of the same disorder, but …

Learning physiology from inherited kidney disorders

J van der Wijst, H Belge, RJM Bindels… - Physiological …, 2019 - journals.physiology.org
The identification of genes causing inherited kidney diseases yielded crucial insights in the
molecular basis of disease and improved our understanding of physiological processes that …

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

L Mansour‐Hendili, A Blanchard, N Le Pottier… - Human …, 2015 - Wiley Online Library
Dent disease is a rare X‐linked tubulopathy characterized by low molecular weight
proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal …

From protein uptake to Dent disease: an overview of the CLCN5 gene

L Gianesello, D Del Prete, M Ceol, G Priante, LA Calò… - Gene, 2020 - Elsevier
Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other
problems such as cardiovascular diseases and overall mortality. In the kidney, the chloride …

Chloride transporters and receptor‐mediated endocytosis in the renal proximal tubule

O Devuyst, A Luciani - The Journal of physiology, 2015 - Wiley Online Library
Key points The reabsorptive activity of renal proximal tubule cells is mediated by receptor‐
mediated endocytosis and polarized transport systems that reflect final cell differentiation …

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface

S Lourdel, T Grand, J Burgos, W González… - … -European Journal of …, 2012 - Springer
Dent's disease is an X-linked recessive disorder affecting the proximal tubules. Mutations in
the 2Cl−/H+ exchanger ClC-5 gene CLCN5 are frequently associated with Dent's disease …

Novel OCRL mutations in patients with Dent-2 disease

D Böckenhauer, A Bökenkamp… - Journal of pediatric …, 2012 - thieme-connect.com
Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene
encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About …