Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.

Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.

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http://www.wikidata.org/entity/Q34405895
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyThe N-terminal domain of the Drosophila mitochondrial replicative DNA helicase contains an iron-sulfur cluster and binds DNASUV3 helicase is required for correct processing of mitochondrial transcripts.Purification and Comparative Assay of the Human Mitochondrial Replicative DNA HelicaseStructure, function and evolution of the animal mitochondrial replicative DNA helicase.TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replicationInvertebrate models for coenzyme q10 deficiency.Inherited mitochondrial genomic instability and chemical exposures.Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.Structural rearrangements in the mitochondrial genome of Drosophila melanogaster induced by elevated levels of the replicative DNA helicase.Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.Developmental arrest in Drosophila melanogaster caused by mitochondrial DNA replication defects cannot be rescued by the alternative oxidase
P2860

Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.

Item
http://www.wikidata.org/entity/Q34405895
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2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@ast
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@en
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@nl
type
label
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@ast
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@en
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@nl
prefLabel
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@ast
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@en
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
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P478
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P577
P5875
P698
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P932
P356
P1433
P1476
Modeling pathogenic mutations ...... onse to mitochondrial defects.
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0043954
P407
P433
P478
P50
P577
P5875
P698
P921
P932