Article
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
Cell reports - 17 May 2016
Assmann Nadine, Dettmer Katja, Simbuerger Johann M B, Broeker Carsten, Nuernberger Nadine, Renner Kathrin, Courtneidge Holly, Klootwijk Enriko D, Duerkop Axel, Hall Andrew, Kleta Robert, Oefner Peter J, Reichold Markus, Reinders Joerg
Abstract excerpt
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 electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the molecular mechanism...
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