Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia (Q24546476)

6

Douglass Matthew Turnbull

Robert W Taylor

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8

Douglass M Turnbull

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William C Copeland

9

William C Copeland

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Gavin Hudson

4

Gavin Hudson

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Matthew J Longley

1

Matthew J Longley

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Cynthia Yu-Wai-Man

3

Cynthia Yu Wai Man

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author name string

Susanna Clark

2

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Steve E Durham

5

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Simon Nightingale

American Journal of Human Genetics

7

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language of work or name

English

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publication date

June 2006

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published in

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volume

78

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issue

6

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page(s)

1026-34

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cites work

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The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance

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Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

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The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

27 September 2017

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Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

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Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

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Characterization of the native and recombinant catalytic subunit of human DNA polymerase gamma: identification of residues critical for exonuclease activity and dideoxynucleotide sensitivity

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POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

28 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/16685652

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16685652