Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM

URN to cite this document:: urn:nbn:de:bvb:355-epub-460882
DOI to cite this document:: 10.5283/epub.46088

Warth, Richard ; Forst, Anna-Lena ; Reichold, Markus ; Kleta, Robert

Preview

License: Creative Commons Attribution 4.0
PDF - Published Version
(3MB)

Date of publication of this fulltext: 15 Sep 2021 15:02

Alternative links to fulltext:DOI Publisher

Details

Preview

Indexed in

Export bibliographical data

Abstract

The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex signaling networks. Proximal tubular mitochondrial dysfunction can therefore affect renal function in very different ways. Two autosomal dominantly ...