Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

Summary: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of...

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Bibliographic Details
Published in:Cell Reports
Main Authors: Nadine Assmann, Katja Dettmer, Johann M.B. Simbuerger, Carsten Broeker, Nadine Nuernberger, Kathrin Renner, Holly Courtneidge, Enriko D. Klootwijk, Axel Duerkop, Andrew Hall, Robert Kleta, Peter J. Oefner, Markus Reichold, Joerg Reinders
Format: Article
Language:English
Published: Elsevier 2016-05-01
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124716304648

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http://www.sciencedirect.com/science/article/pii/S2211124716304648

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