about
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionStructural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutationsMutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegiaAlpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamAlpers-Huttenlocher syndromeMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsThe channel-forming Sym1 protein is transported by the TIM23 complex in a presequence-independent mannerEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.The role of mitochondrial DNA mutations in mammalian agingMitochondrial mosaics in the liver of 3 infants with mtDNA defectsThe in-depth evaluation of suspected mitochondrial diseaseEffects of caloric restriction on age-related hearing loss in rodents and rhesus monkeys.Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.The role of mtDNA mutations in the pathogenesis of age-related hearing loss in mice carrying a mutator DNA polymerase gammaMolecular and clinical genetics of mitochondrial diseases due to POLG mutations.Replication pauses of the wild-type and mutant mitochondrial DNA polymerase gamma: a simulation study.CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American womenClinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneAbnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.Mitochondrial DNA polymerase-gamma and human disease.Valproic acid-associated acute liver failure in children: case report and analysis of liver transplantation outcomes in the United States.Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disordersClustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG geneMouse models of age-related mitochondrial neurosensory hearing lossProspective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism.Disease 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.Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver FailureMutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesisQuantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.Neurodevelopmental manifestations of mitochondrial disease.Mitochondrial diseases and epilepsy.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Review: Central nervous system involvement in mitochondrial diseaseLoss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
POLG mutations in Alpers syndrome.
@en
POLG mutations in Alpers syndrome.
@nl
type
label
POLG mutations in Alpers syndrome.
@en
POLG mutations in Alpers syndrome.
@nl
prefLabel
POLG mutations in Alpers syndrome.
@en
POLG mutations in Alpers syndrome.
@nl
P2093
P1433
P1476
POLG mutations in Alpers syndrome.
@en
P2093
E Rubaek Danielsen
E Østergaard
K V Nguyen
P J McKiernan
R K Naviaux
S Holst Ravn
P304
P356
10.1212/01.WNL.0000182814.55361.70
P407
P577
2005-09-21T00:00:00Z