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Impact of Fanconi-associated protein on the mitochondrial proteome

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Aßmann, Nadine
Date of publication of this fulltext: 18 Sep 2015 10:50

Abstract (English)

This work describes the analysis of a novel, isolated, autosomal dominant form of Fanconi´s syndrome, a disorder of the renal proximal tubule associated with decreased reapsorption of solutes from the primary urine. This yet unknown Fanconi´s syndrome is evoked by a mutation in the third codon of the peroxisomal protein enoyl-CoA hydratase / L-3-hydroxyacyl-CoA dehydrogenase (EHHADH), also called ...


Translation of the abstract (German)

Diese Arbeit beschreibt die Analyse einer neuen Form eines isolierten, autosomal dominanten Fanconi Syndroms, einer Erkrankung des proximalen Tubulus der Niere, die mit einer verringerten Absorption verschiedener Komponenten aus dem Primärharn einhergeht. Dieses bisher unbekannte Fanconi Syndrom wird durch eine Mutation am N-terminalen Ende des peroxisomalen Proteins Enoyl-CoA Hydratase / ...


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