Haploinsufficiency of the Mouse Atp6v1b1 Gene Leads to a Mild Acid-Base Disturbance with Implications for Kidney Stone Disease

Haploinsufficiency of the Mouse Atp6v1b1 Gene Leads to a Mild Acid-Base Disturbance with Implications for Kidney Stone Disease

Background/Aims: Homozygous mutations or deletion of the ATP6V1B1 gene encoding for the B1 subunit of the vacuolar H+-ATPase leads to distal renal tubular acidosis in man and mice. In humans, heterozygous carriers of B1 mutations can develop incomplete dRTA with nephroclacinosis. Here, we investigat...

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Bibliographic Details
Main Authors: Soline Bourgeois, Carla Bettoni, Stéphanie Baron, Carsten A. Wagner
Format: Article
Language:English
Published: Cell Physiol Biochem Press GmbH & Co KG 2018-05-01
Series:Cellular Physiology and Biochemistry
Subjects:
Distal renal tubular acidosis
Heterozygosity
Collecting duct
Online Access:https://www.karger.com/Article/FullText/490186

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