Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. - Wikidata - awgldk - TriplyDB

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

http://www.wikidata.org/entity/Q33936754

about

Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team Mitochondrial disease in childhood: nuclear encoded Alpers-Huttenlocher syndrome Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number Mitochondrial genome maintenance in health and disease.mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae DNA polymerases in the mitochondria: A critical review of the evidence.Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.Defects of mitochondrial DNA replication.Ribonucleotide discrimination and reverse transcription by the human mitochondrial DNA polymerase.Defects in mitochondrial DNA replication and human disease An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis Biochemical analysis of human POLG2 variants associated with mitochondrial disease.Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms Biochemical analysis of the G517V POLG variant reveals wild-type like activity.Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.The interface of transcription and DNA replication in the mitochondria Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.Effect of the Y955C mutation on mitochondrial DNA polymerase nucleotide incorporation efficiency and fidelity.Therapeutic Targeting of the Mitochondria Initiates Excessive Superoxide Production and Mitochondrial Depolarization Causing Decreased mtDNA Integrity Mitochondrial pathology in progressive cerebellar ataxia Genetic insights into OXPHOS defect and its role in cancer Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Biology of mitochondria in neurodegenerative diseases.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 gene

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P2860

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

http://www.wikidata.org/entity/Q33936754

description

2008 nî lūn-bûn

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2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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type

label

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

@ast

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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prefLabel

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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Alice A Basinger

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Barbara K Burton

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Beverly Wical

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Bruce H Cohen

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Bruno Maranda

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Cavatina Truong

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Eric S Schmitt

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Georgianne Arnold

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Jaya Ganesh

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Jose E Abdenur

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P2860

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

Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

Mitochondrial DNA polymerases from yeast to man: a new family of polymerases

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

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

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

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

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

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

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

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E150-72

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10.1002/HUMU.20824

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9

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29

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Donald L. Gilbert

Nicola Brunetti-Pierri

Adeline Vanderver

William C Copeland

Margherita Milone

Kathryn J Swoboda

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2008-09-01T00:00:00Z

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5309612

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18546365

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