MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion-Reference-Cited by-同舟云学术

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Published:2006-04-02 Issue:5 Volume:38 Page:570-575
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Spinazzola Antonella,Viscomi Carlo,Fernandez-Vizarra Erika,Carrara Franco,D'Adamo Pio,Calvo Sarah,Marsano René Massimiliano,Donnini Claudia,Weiher Hans,Strisciuglio Pietro,Parini Rossella,Sarzi Emmanuelle,Chan Alicia,DiMauro Salvatore,Rötig Agnes,Gasparini Paolo,Ferrero Iliana,Mootha Vamsi K,Tiranti Valeria,Zeviani Massimo

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1765.pdf

Reference30 articles.

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2. Saada, A. et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 29, 342–344 (2001).

3. Elpeleg, O. et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 76, 1081–1086 (2005).

4. Mandel, H. et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat. Genet. 29, 337–341 (2001).

5. Nguyen, K.V. et al. POLG mutations in Alpers syndrome. Neurology 65, 1493–1495 (2005).

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