Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsEnzyme kinetics of the mitochondrial deoxyribonucleoside salvage pathway are not sufficient to support rapid mtDNA replicationMitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Defects in mitochondrial DNA replication and human diseaseOxidative stress induced S-glutathionylation and proteolytic degradation of mitochondrial thymidine kinase 2Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.Gene expression deregulation in postnatal skeletal muscle of TK2 deficient mice reveals a lower pool of proliferating myogenic progenitor cells.Mitochondrial toxicity studied with the PBMC of children from the Chinese national pediatric highly active antiretroviral therapy cohort.Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidationMitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Metabolism of deoxypyrimidines and deoxypyrimidine antiviral analogs in isolated brain mitochondriaMitochondrial deficiency in Cockayne syndrome.Mouse models of mitochondrial DNA defects and their relevance for human disease.Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Mitochondrial epilepsy in pediatric and adult patients.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.TK2 mutation presenting as indolent myopathy.Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis.Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.Fibroblast growth factor 21: a novel biomarker for human muscle-manifesting mitochondrial disorders.Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.Retrospective natural history of thymidine kinase 2 deficiency.TK2-related mitochondrial disorder is not restricted to the skeletal muscle.Mitochondrial Depletion Syndromes in Children and Adults
P2860
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P2860
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին 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
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@ast
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@en
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@nl
type
label
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@ast
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@en
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@nl
prefLabel
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@ast
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@en
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@nl
P2093
P356
P1433
P1476
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
@en
P2093
Alexandra Götz
Anders Paetau
Anu Suomalainen
Helena Pihko
Leena Valanne
Outi Saarenpää-Heikkilä
Pirjo Isohanni
Riitta Herva
Sanna Marjavaara
P304
P356
10.1093/BRAIN/AWN236
P407
P577
2008-09-26T00:00:00Z