Reversion of mtDNA depletion in a patient with TK2 deficiency.

Reversion of mtDNA depletion in a patient with TK2 deficiency.

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http://www.wikidata.org/entity/Q44394599
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic studyClinical and molecular features of mitochondrial DNA depletion syndromes.Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsThymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in miceOnset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.Mitochondrial toxicity studied with the PBMC of children from the Chinese national pediatric highly active antiretroviral therapy cohort.Deoxyribonucleoside kinases in mitochondrial DNA depletion.Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.Structure, physiological role, and specific inhibitors of human thymidine kinase 2 (TK2): present and future.Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.Peginterferon alpha-2b plus ribavirin vs interferon alpha-2b plus ribavirin for chronic hepatitis C in HIV-coinfected patients.Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts.Retrospective natural history of thymidine kinase 2 deficiency.
P2860

Reversion of mtDNA depletion in a patient with TK2 deficiency.

Item
http://www.wikidata.org/entity/Q44394599
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Reversion of mtDNA depletion in a patient with TK2 deficiency.
@en
Reversion of mtDNA depletion in a patient with TK2 deficiency.
@nl
type
label
Reversion of mtDNA depletion in a patient with TK2 deficiency.
@en
Reversion of mtDNA depletion in a patient with TK2 deficiency.
@nl
prefLabel
Reversion of mtDNA depletion in a patient with TK2 deficiency.
@en
Reversion of mtDNA depletion in a patient with TK2 deficiency.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Reversion of mtDNA depletion in a patient with TK2 deficiency.
@en
P2093
P304
P31
P356
10.1212/01.WNL.0000055928.58122.47
P407
P433
P478
P50
P577
P698
P921