Scientific article
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
Affiliation entities
Research groups
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
Main files (1)
Article (Published version)
Identifiers
- PID : unige:95968
- DOI : 10.1016/j.ajhg.2016.01.014
- PMID : 26942284
Additional URL for this publicationhttp://www.sciencedirect.com/science/article/pii/S0002929716000483
Journal ISSN0002-9297
