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


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 ...

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