Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
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Yeast Vps13 promotes mitochondrial function and is localized at membrane contact sites.Drosophila Vps13 Is Required for Protein Homeostasis in the Brain.Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.The Birth of the Modern Era of Parkinson's Disease Genetics.Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease.Defects in trafficking bridge Parkinson's disease pathology and genetics.Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?Mechanisms of Gene-Environment Interactions in Parkinson's Disease.Autophagy in neurodegenerative diseases: pathogenesis and therapy.New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.[Epidemiology and causes of Parkinson's disease].FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with ParkinsonismVps13 and Cdc31/centrin: Puzzling partners in membrane traffic.The Vps13p-Cdc31p complex is directly required for TGN late endosome transport and TGN homotypic fusion.Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.Endoplasmic reticulum-mitochondria junction is required for iron homeostasis.Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.Galectin-12 in Cellular Differentiation, Apoptosis and Polarization.Vacuolar protein sorting 13C is a novel lipid droplet protein that inhibits lipolysis in brown adipocytes.Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.The genetic architecture of mitochondrial dysfunction in Parkinson's disease.Vps13-Mcp1 interact at vacuole-mitochondria interfaces and bypass ER-mitochondria contact sites.A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.VPS13C-Another Hint at Mitochondrial Dysfunction in Familial Parkinson's Disease.PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process.Neuronal lysosomes.Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson's Disease Penetrance.Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sitesProceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
description
2016 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի մարտին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
im März 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2016/03/03)
@nl
наукова стаття, опублікована в березні 2016
@uk
مقالة علمية (نشرت في 3-3-2016)
@ar
name
Loss of VPS13C Function in Aut ...... NK1/Parkin-Dependent Mitophagy
@ast
Loss of VPS13C Function in Aut ...... NK1/Parkin-Dependent Mitophagy
@en
type
label
Loss of VPS13C Function in Aut ...... NK1/Parkin-Dependent Mitophagy
@ast
Loss of VPS13C Function in Aut ...... NK1/Parkin-Dependent Mitophagy
@en
prefLabel
Loss of VPS13C Function in Aut ...... NK1/Parkin-Dependent Mitophagy
@ast
Loss of VPS13C Function in Aut ...... NK1/Parkin-Dependent Mitophagy
@en
P2093
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P921
P3181
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Loss of VPS13C Function in Aut ...... NK1/Parkin-Dependent Mitophagy
@en
P2093
Alain Destée
Aude Nicolas
Claire Pujol
Dena G. Hernandez
Ebba Lohmann
Edor Kabashi
Elisa Majounie
Florence Cormier-Dequaire
François Tison
French Parkinson's Disease Genetics Study (PDG)
P2860
Parkin mediates neuroprotection through activation of IkappaB kinase/nuclear factor-kappaB signaling
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
P304
P3181
P356
10.1016/J.AJHG.2016.01.014
P407
P50
P577
2016-03-03T00:00:00Z