Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
about
A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic diseaseTreatment 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 diseaseIdentification of a de novo thymidylate biosynthesis pathway in mammalian mitochondriaDeficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionLarge-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyTwinkle 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 failureMitochondriaDeficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletionSurvey of human mitochondrial diseases using new genomic/proteomic toolsMitochondrial disease in adults: what's old and what's new?Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approachesMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsMitochondrial genome changes and neurodegenerative diseasesNucleotide salvage deficiencies, DNA damage and neurodegenerationHuman mitochondrial 5'-deoxyribonucleotidase. Overproduction in cultured cells and functional aspectsDigenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/TwinkleSequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Mitochondrial DNA depletion and dGK gene mutationsClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathySyndromic parkinsonism and dementia associated with OPA1 missense mutationsStructure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegiaTwinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy numberDiagnosis and management of adult patients with chronic intestinal pseudoobstructionEnzyme kinetics of the mitochondrial deoxyribonucleoside salvage pathway are not sufficient to support rapid mtDNA replicationLimited 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.Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient miceA crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathyHistorical perspective on mitochondrial medicineThe NTP pyrophosphatase DCTPP1 contributes to the homoeostasis and cleansing of the dNTP pool in human cellsCloning and characterization of full-length mouse thymidine kinase 2: the N-terminal sequence directs import of the precursor protein into mitochondria.Central nervous system manifestations of mitochondrial disorders.Maintenance and integrity of the mitochondrial genome: a plethora of nuclear genes in the budding yeastFatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.EFNS guidelines on the molecular diagnosis of mitochondrial disorders.Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy
P2860
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P2860
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@ast
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@en
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@en-gb
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@nl
type
label
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@ast
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@en
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@en-gb
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@nl
prefLabel
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@ast
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@en
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@en-gb
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@nl
P2860
P921
P3181
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P1476
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
@en
P2093
P2860
P304
P3181
P356
10.1126/SCIENCE.283.5402.689
P407
P577
1999-01-01T00:00:00Z