Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
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The functional organization of mitochondrial genomes in human cellsTreatment for mitochondrial disordersTreatment for mitochondrial disordersLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseTwinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingHuman DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediatesHuman Dna2 is a nuclear and mitochondrial DNA maintenance proteinLocalisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNATWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding proteinRegulation of mitochondrial D-loops by transcription factor A and single-stranded DNA-binding proteinArchitectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNATwinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNAReconstitution of a minimal mtDNA replisome in vitroMitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisGenome-wide comprehensive analysis of human helicasesThe mitochondrial DNA helicase TWINKLE can assemble on a closed circular template and support initiation of DNA synthesisModular architecture of the hexameric human mitochondrial DNA helicaseMitochondriaMitochondrial DNA mutations in human diseaseComposition and dynamics of human mitochondrial nucleoidsStructural and functional characterizations of mung bean mitochondrial nucleoidsMitophagy plays a central role in mitochondrial ageingG-quadruplexes and helicasesMitochondrial disease in adults: what's old and what's new?Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityHuman mitochondrial DNA replicationMitochondrial geneticsRoles of DNA helicases in the maintenance of genome integrityMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsMitochondrial form and functionMinireview: DNA replication in plant mitochondriaMitochondrial disorders: challenges in diagnosis & treatmentMechanism of homologous recombination and implications for aging-related deletions in mitochondrial DNAReplication proteins and human diseaseMitochondrial genome changes and neurodegenerative diseasesMitochondrial involvement in neurodegenerative diseasesAtaxia.The conserved translocase Tim17 prevents mitochondrial DNA lossDigenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/TwinkleSyndromic parkinsonism and dementia associated with OPA1 missense mutations
P2860
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P2860
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին 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
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@ast
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@en
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@nl
type
label
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@ast
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@en
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@nl
prefLabel
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@ast
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@en
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@nl
P2093
P50
P921
P3181
P356
P1433
P1476
Human mitochondrial DNA deleti ...... tein localized in mitochondria
@en
P2093
A Suomalainen
G M Fabrizi
H T Jacobs
J N Spelbrink
P2888
P304
P3181
P356
10.1038/90058
P407
P577
2001-07-01T00:00:00Z
P6179
1039520087