Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
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Treatment for mitochondrial disordersTreatment for mitochondrial disordersHuman UMP-CMP kinase 2, a novel nucleoside monophosphate kinase localized in mitochondriaLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionDeficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionTwinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNAAAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureMitochondriaKinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletionDeficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletionNavajo neurohepatopathy is caused by a mutation in the MPV17 geneMitochondrial disease in adults: what's old and what's new?Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityReplication proteins and human diseaseThe channel-forming Sym1 protein is transported by the TIM23 complex in a presequence-independent mannerHuman mitochondrial 5'-deoxyribonucleotidase. Overproduction in cultured cells and functional aspectsMitochondrial DNA depletion and dGK gene mutationsA novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNAInborn errors of pyrimidine metabolism: clinical update and therapyMutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletionLimited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient miceSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsThe kinetic effects on thymidine kinase 2 by enzyme-bound dTTP may explain the mitochondrial side effects of antiviral thymidine analogsHistorical perspective on mitochondrial medicineThe NTP pyrophosphatase DCTPP1 contributes to the homoeostasis and cleansing of the dNTP pool in human cellsFatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsThe in-depth evaluation of suspected mitochondrial diseaseFall in circulating mononuclear cell mitochondrial DNA content in human sepsis.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkMitochondrial disorders of the nuclear genomeGlobal genetic determinants of mitochondrial DNA copy numberThymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in miceDeoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.Inherited mitochondrial DNA depletion.Defects in mitochondrial DNA replication and human disease
P2860
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P2860
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին 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
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@ast
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@en
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@nl
type
label
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@ast
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@en
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@nl
prefLabel
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@ast
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@en
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@nl
P2093
P356
P1433
P1476
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
@en
P2093
P2888
P356
10.1038/NG751
P407
P50
P577
2001-11-01T00:00:00Z