Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
about
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingMitochondrial DNA replication and disease: insights from DNA polymerase γ mutationsMitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosisThe mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNAΑlpha-Synuclein as a Mediator in the Interplay between Aging and Parkinson's DiseaseElectron Transport Disturbances and Neurodegeneration: From Albert Szent-Györgyi's Concept (Szeged) till Novel Approaches to Boost Mitochondrial BioenergeticsDisease-causing missense mutations in human DNA helicase disordersMinireview: DNA replication in plant mitochondriaMitochondrial genome changes and neurodegenerative diseasesModelling age-related metabolic disorders in the mouseProgressive loss of mitochondrial DNA in thymidine kinase 2-deficient miceDo mtDNA deletions drive premature aging in mtDNA mutator mice?Mitochondria: in sickness and in healthNovel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Depression-like episodes in mice harboring mtDNA deletions in paraventricular thalamusThe role of mitochondrial DNA mutations in mammalian agingBiomarker Validation for Aging: Lessons from mtDNA Heteroplasmy Analyses in Early Cancer Detection.Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy numberThe mtDNA mutator mouse: Dissecting mitochondrial involvement in aging.Inactivation of Pif1 helicase causes a mitochondrial myopathy in miceUltra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.Mitochondrial DNA alterations and reduced mitochondrial function in agingDefects of mitochondrial DNA replication.Mitochondrial helicases and mitochondrial genome maintenanceDisease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.Defects in mitochondrial DNA replication and human diseaseMitochondrial DNA deletions are associated with non-B DNA conformationsAn atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresThe Arabidopsis At1g30680 gene encodes a homologue to the phage T7 gp4 protein that has both DNA primase and DNA helicase activities.Helicase-inactivating mutations as a basis for dominant negative phenotypes.Inherited mitochondrial diseases of DNA replicationThe overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice.Mitochondrial DNA mutations in disease and agingEnergizing Genetics and Epi-genetics: Role in the Regulation of Mitochondrial Function.
P2860
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P2860
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@ast
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@en
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@nl
type
label
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@ast
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@en
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@nl
prefLabel
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@ast
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@en
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@nl
P2093
P2860
P50
P356
P1476
Mutant mitochondrial helicase ...... mitochondrial disease in mice.
@en
P2093
Anders Paetau
Anu Jalanko
Anu Suomalainen
Ilse Lappalainen
Katja Peltola Mjosund
P2860
P304
17687-17692
P356
10.1073/PNAS.0505551102
P407
P577
2005-11-21T00:00:00Z