DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
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Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesDNA ligase III: a spotty presence in eukaryotes, but an essential function where testedDNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repairMitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisAlpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamDNA polymerase γ and disease: what we have learned from yeastAlpers-Huttenlocher syndromeAlkyladenine DNA glycosylase (AAG) localizes to mitochondria and interacts with mitochondrial single-stranded binding protein (mtSSB)ALS spinal neurons show varied and reduced mtDNA gene copy numbers and increased mtDNA gene deletions.DNA damage related crosstalk between the nucleus and mitochondria.A mechanistic view of human mitochondrial DNA polymerase gamma: providing insight into drug toxicity and mitochondrial diseaseMitochondrial genome maintenance in health and disease.Identification of multiple rate-limiting steps during the human mitochondrial transcription cycle in vitroPurification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.Replication pauses of the wild-type and mutant mitochondrial DNA polymerase gamma: a simulation study.High-dose clevudine impairs mitochondrial function and glucose-stimulated insulin secretion in INS-1E cells.Defects in mitochondrial DNA replication and human diseaseRecurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?Biochemical analysis of human POLG2 variants associated with mitochondrial disease.Clustering 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 Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.Disconnecting XRCC1 and DNA ligase IIIAdjusting MtDNA Quantification in Whole Blood for Peripheral Blood Platelet and Leukocyte Counts.Genetic insights into OXPHOS defect and its role in cancerDigital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.Clinical and molecular features of POLG-related mitochondrial disease.Human mitochondrial RNA polymerase: evaluation of the single-nucleotide-addition cycle on synthetic RNA/DNA scaffolds.Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation.Construction and application of a protein and genetic interaction network (yeast interactome).R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activityHuman mitochondrial DNA replication machinery and disease.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.Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesisThe mitochondrial DNA polymerase in health and disease.A transient kinetic approach to investigate nucleoside inhibitors of mitochondrial DNA polymerase gamma.POLG1-related and other "mitochondrial Parkinsonisms": an overview.Infantile-onset disorders of mitochondrial replication and protein synthesis.Mechanisms of mitochondrial diseases.
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DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 29 October 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
DNA polymerase gamma and mitoc ...... consequence of POLG mutations.
@en
DNA polymerase gamma and mitoc ...... consequence of POLG mutations.
@nl
type
label
DNA polymerase gamma and mitoc ...... consequence of POLG mutations.
@en
DNA polymerase gamma and mitoc ...... consequence of POLG mutations.
@nl
prefLabel
DNA polymerase gamma and mitoc ...... consequence of POLG mutations.
@en
DNA polymerase gamma and mitoc ...... consequence of POLG mutations.
@nl
P2860
P1476
DNA polymerase gamma and mitoc ...... consequence of POLG mutations
@en
P2093
Sherine S L Chan
P2860
P304
P356
10.1016/J.BBABIO.2008.10.007
P407
P577
2008-10-29T00:00:00Z