Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
about
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator miceMitochondrial genome maintenance in health and disease.mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiaeClinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneCo-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.A novel POLG gene mutation in a patient with SANDODisease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.Anticancer DNA intercalators cause p53-dependent mitochondrial DNA nucleoid re-modellingGender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE.Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.POLG mutations in Australian patients with mitochondrial disease.Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.Mitochondrial Depletion Syndromes in Children and Adults
P2860
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P2860
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Depletion of mitochondrial DNA ...... quence of catalytic mutations.
@ast
Depletion of mitochondrial DNA ...... quence of catalytic mutations.
@en
type
label
Depletion of mitochondrial DNA ...... quence of catalytic mutations.
@ast
Depletion of mitochondrial DNA ...... quence of catalytic mutations.
@en
prefLabel
Depletion of mitochondrial DNA ...... quence of catalytic mutations.
@ast
Depletion of mitochondrial DNA ...... quence of catalytic mutations.
@en
P2093
P2860
P356
P1476
Depletion of mitochondrial DNA ...... quence of catalytic mutations.
@en
P2093
Anthony O'Rourke
Carl Fratter
Conrad Smith
Garry K Brown
Joanna Poulton
Neil Ashley
Susan Adams
Vasantha Gowda
P2860
P304
P356
10.1093/HMG/DDN150
P577
2008-05-16T00:00:00Z