Diseases caused by nuclear genes affecting mtDNA stability.
about
TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding proteinSal1p, a calcium-dependent carrier protein that suppresses an essential cellular function associated With the Aac2 isoform of ADP/ATP translocase in Saccharomyces cerevisiae.Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy numberMitochondrial DNA polymerase gamma is essential for mammalian embryogenesisThiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.Phenotypic rescue of a Drosophila model of mitochondrial ANT1 disease.A mechanistic view of human mitochondrial DNA polymerase gamma: providing insight into drug toxicity and mitochondrial diseaseInducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype.Gene therapy for the treatment of mitochondrial DNA disorders.Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.Heterozygous Polg mutation causes motor dysfunction due to mtDNA deletions.Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.Two families with autosomal dominant progressive external ophthalmoplegiaTechniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.Development of hepatocellular carcinoma in Iqgap2-deficient mice is IQGAP1 dependentDepletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEOMice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA.Reduced cytosolic protein synthesis suppresses mitochondrial degenerationA diagnostic algorithm for metabolic myopathiesCardiological manifestations of mitochondrial respiratory chain disorders.Mitochondrial Mutations in Cardiac Disorders.adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.Ultrastructure meets reproductive success: performance of a sphecid wasp is correlated with the fine structure of the flight-muscle mitochondria.
P2860
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P2860
Diseases caused by nuclear genes affecting mtDNA stability.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Diseases caused by nuclear genes affecting mtDNA stability.
@ast
Diseases caused by nuclear genes affecting mtDNA stability.
@en
Diseases caused by nuclear genes affecting mtDNA stability.
@nl
type
label
Diseases caused by nuclear genes affecting mtDNA stability.
@ast
Diseases caused by nuclear genes affecting mtDNA stability.
@en
Diseases caused by nuclear genes affecting mtDNA stability.
@nl
prefLabel
Diseases caused by nuclear genes affecting mtDNA stability.
@ast
Diseases caused by nuclear genes affecting mtDNA stability.
@en
Diseases caused by nuclear genes affecting mtDNA stability.
@nl
P2860
P356
P1476
Diseases caused by nuclear genes affecting mtDNA stability.
@en
P2093
Kaukonen J
Suomalainen A
P2860
P356
10.1002/AJMG.1379
P577
2001-01-01T00:00:00Z