A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
about
Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of DiseaseParkinson's disease-associated mutant VPS35 causes mitochondrial dysfunction by recycling DLP1 complexesVPS35, the Retromer Complex and Parkinson's Disease.Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.In vivo evidence of pathogenicity of VPS35 mutations in the Drosophila.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.Autosomal dominant Parkinson's disease caused by SNCA duplications.Genetic insights into sporadic Parkinson's disease pathogenesis.The VPS35 gene and Parkinson's disease.Recent advances in Parkinson’s disease genetics.Advances in the genetics of Parkinson disease.VPS35 Parkinson's disease phenotype resembles the sporadic disease.Parkinsonism and inborn errors of metabolism.Insulin-Like Growth Factor-II/Cation-Independent Mannose 6-Phosphate Receptor in Neurodegenerative Diseases.ATP Maintenance via Two Types of ATP Regulators Mitigates Pathological Phenotypes in Mouse Models of Parkinson's Disease.Genetic variability of the retromer cargo recognition complex in parkinsonism.Vacuolar protein sorting 35 (Vps35) rescues locomotor deficits and shortened lifespan in Drosophila expressing a Parkinson's disease mutant of Leucine-Rich Repeat Kinase 2 (LRRK2).Control of mitochondrial homeostasis by endocytic regulatory proteins.Mitochondria: A Common Target for Genetic Mutations and Environmental Toxicants in Parkinson's Disease.The functional roles of retromer in Parkinson's disease.Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice.Gene Linkage and Systems Biology.The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human.
P2860
Q28074841-1F560717-94E4-4A2C-B5E7-B8D53CA34B80Q28115112-4FB58DF7-9FA1-400E-B94B-9C69C19F12F8Q33708940-A314BC9B-7922-4C7F-82F9-046651DBD9D6Q33991769-BFA23C72-9268-473C-8E93-D63704FD0A8EQ34320325-C66DCB83-409A-4610-9995-0629B2298316Q34336776-714E5647-6159-4A24-BC88-2138881BEA46Q35186622-BC9205D1-0D62-4C13-B687-4D5EB89479B3Q36765217-CD9C59C3-440E-49FE-84F1-884518BE451FQ37583402-DBC85E6B-D32A-41FE-A883-2E0A6A62B0FDQ38093808-1931FC39-54E9-45D6-BD46-5B2D6C527410Q38116806-D9E14962-C55E-40CE-9A2C-2767BC332DBDQ38121773-4EB952EB-43F9-42A7-A57F-D7924961F920Q38190017-833C4A16-0FEA-4182-AF10-E91E086F887EQ38218281-6FAD6FC7-7380-47E4-ACC8-585083A962C0Q38780921-E675CEDE-071E-433D-8864-533848BE5007Q41348875-E7DBC5B5-537D-4770-93CD-E837898C8602Q41727299-10DD95AF-7DD6-4009-962B-7AFFBE20E6EBQ42065653-CC648DE2-04D2-42E3-A940-F718BF439AF6Q46353890-0AE1C4B1-4076-4015-B9BF-07C12A204D40Q47147993-D83AD03E-0D01-4613-9051-9C8B7107B4ACQ47324789-3F6830AA-C91E-4356-AB18-54AAF899E4B3Q47806042-736E8013-D8E7-41DE-84EC-C64E1BF0F549Q51811980-A8C0995C-BD57-4B01-9F20-5257D4EBF071Q55265334-7DE749F2-CA20-4E92-BBE6-E080CCBAE4B9
P2860
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
A multi-centre clinico-genetic ...... r disease-associated variants.
@ast
A multi-centre clinico-genetic ...... r disease-associated variants.
@en
type
label
A multi-centre clinico-genetic ...... r disease-associated variants.
@ast
A multi-centre clinico-genetic ...... r disease-associated variants.
@en
prefLabel
A multi-centre clinico-genetic ...... r disease-associated variants.
@ast
A multi-centre clinico-genetic ...... r disease-associated variants.
@en
P2093
P2860
P50
P1476
A multi-centre clinico-genetic ...... r disease-associated variants.
@en
P2093
Anna Krygowska-Wajs
Cecile Libioulle
David Crosiers
Demetrius Maraganore
GEOPD consortium
Gaetan Garraux
Georg Auburger
Georgia Xiromerisiou
Georgios M Hadjigeorgiou
Grzegorz Opala
P2860
P304
P356
10.1136/JMEDGENET-2012-101155
P407
P50
P577
2012-11-01T00:00:00Z