Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion-Reference-Cited by-同舟云学术

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

Published:2008-09-30 Issue:2 Volume:30 Page:248-254
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Taanman Jan-Willem,Rahman Shamima,Pagnamenta Alistair T.,Morris Andrew A.M.,Bitner-Glindzicz Maria,Wolf Nicole I.,Leonard James V.,Clayton Peter T.,Schapira Anthony H.V.

Funder

Children Living with Inherited Metabolic Diseases

Child Health Research Appeal Trust

Medical Research Council, and the National Health Service Executive

The Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference34 articles.

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2. Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase γ mutations associated with disease in human;Baruffini;Biochim Biophys Acta,2007

3. Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures;Blake;Am J Pathol,1999

4. Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication;Bodnar;Biochem J,1995

5. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit;Chan;J Biol Chem,2005

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