Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

URN to cite this document:: urn:nbn:de:bvb:355-epub-339928
DOI to cite this document:: 10.5283/epub.33992

Assmann, Nadine ; Dettmer, Katja

; Simbürger, Johann ; Broeker, Carsten ; Nuernberger, Nadine ; Renner, Kathrin ; Courtneidge, H. ; Klootwijk, E. D. ; Duerkop, Axel

; Hall, A. ; Kleta, R. ; Oefner, Peter J.

; Reichold, Markus ; Reinders, Jörg

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Date of publication of this fulltext: 30 Jun 2016 13:45

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Abstract

We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missensemutation 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 ...