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

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Warth, Richard ; Forst, Anna-Lena ; Reichold, Markus ; Kleta, Robert
License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 15 Sep 2021 15:02


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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