Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease-Reference-Cited by-同舟云学术

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Published:2013-01-13 Issue:2 Volume:45 Page:214-219
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Kornblum Cornelia,Nicholls Thomas J,Haack Tobias B,Schöler Susanne,Peeva Viktoriya,Danhauser Katharina,Hallmann Kerstin,Zsurka Gábor,Rorbach Joanna,Iuso Arcangela,Wieland Thomas,Sciacco Monica,Ronchi Dario,Comi Giacomo P,Moggio Maurizio,Quinzii Catarina M,DiMauro Salvatore,Calvo Sarah E,Mootha Vamsi K,Klopstock Thomas,Strom Tim M,Meitinger Thomas,Minczuk Michal,Kunz Wolfram S,Prokisch Holger

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2501.pdf

Reference33 articles.

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2. Longley, M.J. et al. Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia. Am. J. Hum. Genet. 78, 1026–1034 (2006).

3. Spelbrink, J.N. et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4–like protein localized in mitochondria. Nat. Genet. 28, 223–231 (2001).

4. Nishino, I., Spinazzola, A. & Hirano, M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283, 689–692 (1999).

5. Kaukonen, J. et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289, 782–785 (2000).

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