Clinical and molecular features of mitochondrial DNA depletion syndromes.
about
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaMitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsMitochondrial disease in childhood: nuclear encodedDNA polymerase γ and disease: what we have learned from yeastMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsHistorical perspective on mitochondrial medicineA computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis.Mitochondrial genome maintenance in health and disease.When should a rheumatologist suspect a mitochondrial myopathy?Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Ribonucleotide discrimination and reverse transcription by the human mitochondrial DNA polymerase.Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 genePost mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsA Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.Neonatal liver failure due to deoxyguanosine kinase deficiencyPioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophyMammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cellsCanine MPV17 truncation without clinical manifestations.Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.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 geneNuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Adult mitochondrial DNA depletion syndrome with mild manifestations.Evaluation of the child with suspected mitochondrial liver diseaseMitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.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 FailureSyndromes associated with mitochondrial DNA depletion.Oxygenomics in environmental stress.Neurodevelopmental manifestations of mitochondrial disease.Genetics and genomics of Parkinson's disease.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Synthesis of mitochondrial DNA precursors during myogenesis, an analysis in purified C2C12 myotubes.In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.
P2860
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P2860
Clinical and molecular features of mitochondrial DNA depletion syndromes.
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Clinical and molecular features of mitochondrial DNA depletion syndromes.
@ast
Clinical and molecular features of mitochondrial DNA depletion syndromes.
@en
type
label
Clinical and molecular features of mitochondrial DNA depletion syndromes.
@ast
Clinical and molecular features of mitochondrial DNA depletion syndromes.
@en
prefLabel
Clinical and molecular features of mitochondrial DNA depletion syndromes.
@ast
Clinical and molecular features of mitochondrial DNA depletion syndromes.
@en
P2093
P2860
P50
P1476
Clinical and molecular features of mitochondrial DNA depletion syndromes
@en
P2093
P2860
P2888
P304
P356
10.1007/S10545-008-1038-Z
P577
2008-12-27T00:00:00Z
P5875
P6179
1007228709