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Scientific article
Open access
English

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

ContributorsFrench Parkinson's Disease Genetics Study; International Parkinson's Disease Genomics Consortium
CollaboratorsKrack, Paul
Published inAmerican journal of human genetics, vol. 98, no. 3, p. 500-513
Publication date2016
Keywords
  • Adult
  • Aged
  • Animals
  • COS Cells
  • Case-Control Studies
  • Consanguinity
  • Female
  • Gene Silencing
  • Genetic Heterogeneity
  • HEK293 Cells
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Degradation/*genetics
  • Parkinsonian Disorders/diagnosis/*genetics
  • Pedigree
  • Phenotype
  • Protein Kinases/*genetics/metabolism
  • Proteins/*genetics/metabolism
  • Reproducibility of Results
  • Turkey
  • Ubiquitin-Protein Ligases/*genetics/metabolism
Citation (ISO format)
French Parkinson’s Disease Genetics Study, International Parkinson’s Disease Genomics Consortium. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. In: American journal of human genetics, 2016, vol. 98, n° 3, p. 500–513. doi: 10.1016/j.ajhg.2016.01.014
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Article (Published version)
accessLevelPublic
Identifiers
ISSN of the journal0002-9297
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539downloads

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