Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia-Reference-Cited by-同舟云学术

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Published:2006-06 Issue:6 Volume:78 Page:1026-1034
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Longley Matthew J.,Clark Susanna,Yu Wai Man Cynthia,Hudson Gavin,Durham Steve E.,Taylor Robert W.,Nightingale Simon,Turnbull Douglass M.,Copeland William C.,Chinnery Patrick F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Mitochondrial respiratory-chain diseases;DiMauro;N Engl J Med,2003

2. DNA polymerase γ, the mitochondrial replicase;Kaguni;Annu Rev Biochem,2004

3. The mitochondrial p55 accessory subunit of human DNA polymerase γ enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance;Lim;J Biol Chem,1999

4. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions;Van Goethem;Nat Genet,2001

5. Mutations of mitochondrial DNA polymerase γ are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia;Lamantea;Ann Neurol,2002

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