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Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

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 and Reinders, Jörg (2016) Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy. Cell Reports (Cell Rep) 15 (7), pp. 1423-1429.

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

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


Abstract

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 ...

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Item type:Article
Date:May 2016
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Medicine > Lehrstuhl für Innere Medizin III (Hämatologie und Internistische Onkologie)
Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Armin Kurtz
Chemistry and Pharmacy > Institut für Anorganische Chemie
Identification Number:
ValueType
10.1016/j.celrep.2016.04.037DOI
Keywords:Fanconi syndrome; mitochondriopathy; fatty acid oxidation; supercomplexes
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:33992
Owner only: item control page

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