RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
about
Mitochondrial DNA replication: a PrimPol perspective.Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial diseaseViable RNaseH1 knockout mice show RNaseH1 is essential for R loop processing, mitochondrial and liver functionMGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication.Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.Human mitochondrial DNA replication machinery and disease.Gastrointestinal manifestations of mitochondrial disorders: a systematic review.Mutations causing mitochondrial disease: What is new and what challenges remain?Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.Mouse models for mitochondrial diseases.Human mitochondrial nucleases.Genetic Counselling for Maternally Inherited Mitochondrial Disorders.MtDNA-maintenance defects: syndromes and genes.Off-Target Effects of Drugs that Disrupt Human Mitochondrial DNA Maintenance.Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.RNase H1-Dependent Antisense Oligonucleotides Are Robustly Active in Directing RNA Cleavage in Both the Cytoplasm and the Nucleus.Progressive External Ophthalmoplegia.The presence of rNTPs decreases the speed of mitochondrial DNA replication.Mutations in compromise cell survival in OxPhos-dependent metabolic conditionsA two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL
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P2860
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
description
2015 nî lūn-bûn
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2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
@zh-mo
2015年論文
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2015年论文
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name
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@ast
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@en
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@nl
type
label
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@ast
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@en
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@nl
prefLabel
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@ast
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@en
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@nl
P2093
P2860
P50
P1476
RNASEH1 Mutations Impair mtDNA ...... itochondrial Encephalomyopathy
@en
P2093
Alice Zanolini
Aurelio Reyes
Franco Carrara
Jianguo Zhang
Laura Melchionda
Mingyan Fang
Sara Bonato
P2860
P304
P356
10.1016/J.AJHG.2015.05.013
P407
P50
P577
2015-06-18T00:00:00Z