Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease - Wikidata - awgldk - TriplyDB

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

http://www.wikidata.org/entity/Q36841500

about

Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance Identification of TMEM230 mutations in familial Parkinson's disease The EIF4G1 gene and Parkinson's disease EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways.Application of next-generation sequencing technologies in Neurology.The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.Identification of synaptosomal proteins binding to monomeric and oligomeric α-synuclein.Decoding Parkinson's Disease Pathogenesis: The Role of Deregulated mRNA Translation.Whole-Exome Sequencing in Familial Parkinson Disease.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Role of translation initiation factor 4G in lifespan regulation and age-related health Recent advances in Parkinson’s disease genetics.Advances in the genetics of Parkinson disease.Genetics and genomics of Parkinson's disease.LRRK2 pathobiology in Parkinson's disease.Cutaneous malignant melanoma and Parkinson disease: Common pathways?Rabs, Membrane Dynamics, and Parkinson's Disease.The emerging role of retromer in neuroprotection.Commentary: Parkinson's Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-Synuclein.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).Epigenetics in Parkinson's Disease.The functional roles of retromer in Parkinson's disease.EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts.Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

P2860

Q24294458-A76769DB-6A99-494B-821C-773B12A4E039 Q28077356-30DB2F0A-C0A1-4F4F-9FBE-72F74D7A4563 Q28115600-F4002791-9A97-4B6E-B757-169EB43BA83E Q28116373-FFDB102C-A6BA-4F5E-9B23-716D8BAC82F2 Q33665756-9A7D38CE-BBD5-48C4-B3AE-28C406E81A0C Q34336776-E95A372A-7DDB-482A-8EDA-1D7F9D1F8036 Q34550197-635AD6DF-A393-4161-A1EB-E66BEEED2C98 Q34658348-9224AB10-0440-49AD-9A59-A57C2DF4E06A Q35186622-3DB14E66-EEF7-4060-AD65-5F6B381833F5 Q35557260-0A93F70E-18BD-4A67-998D-BC1BA9611E03 Q37053959-D5C49E73-0CDB-4755-B10F-D657E7B4318C Q37098159-55AE47A2-6B1E-4AC7-BE55-85E64995B5D0 Q37187461-0D1B0513-2F79-40C3-AA45-AEB60591313C Q37663839-C952B06E-5B6A-490C-B70C-36C050FD721A Q38116806-EDFFCBE7-C53F-4D57-A126-557C2F9F545D Q38121773-05FC6EA1-9156-4168-AC27-78417C6715F4 Q38233866-1F50B926-DF08-49A2-853A-86640BDEB723 Q38253871-91DD1D22-BAAB-43CE-B33C-846FC015D3D0 Q38985873-1E9B1A41-82DA-45D6-AF21-4DAB5169141C Q39031304-5901BE46-83EB-4D94-BFB4-AD028E7EB029 Q39235096-772841F1-3FF0-4A37-ABE6-100EE96CAE6C Q40279223-3CAA65A0-CD7B-45C8-972E-A78B7444A8C7 Q42065653-BBB57427-4F5C-47FE-B49E-A1C90789997D Q47320399-B398C76A-01DF-42AE-9753-5F8691E0B7D7 Q47324789-8726F42F-39DB-4071-BEF0-FFAC7B9F7ACB Q48256432-FE1C0841-67B9-42D6-A7F7-83AFBC41F056 Q54709457-09BC9F36-E5B2-403F-A76A-6E63093F15C1 Q55058366-2616941E-8DBC-4F0F-A711-F43EA38769BE

P2860

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

http://www.wikidata.org/entity/Q36841500

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

@en

type

label

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

@en

prefLabel

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

@en

P1433

Q36841500-9941A5DB-5F4F-4156-9CAE-97CB6CA79EC0

P1476

Q36841500-D961BDAA-F584-4E57-B009-DCD5BC25894B

P2093

Q36841500-03FAB3EB-77CA-491A-A241-85E256F8AF91

Q36841500-8A41849B-AD32-48D4-870D-BB91EAE3339A

Q36841500-97111D77-32CE-40D1-BFA7-A176B77626E5

Q36841500-D28986F1-44FA-486A-8416-81286854C22C

Q36841500-D67F8A3A-670E-4A3E-A247-E1C73107191A

Q36841500-E7D714CF-33B5-41E3-9069-350C8010F1AD

Q36841500-F753C583-A4B7-4F2B-83AF-5C3D1209F1D3

Q36841500-F89087CC-794B-42AF-9142-43F476AB56AE

P2860

Q36841500-04A696F7-2CAD-404E-999B-56DBBC1D5C5A

Q36841500-085E8E74-F149-44DE-B512-EF75AEE9334D

Q36841500-115C36F5-958C-4942-8D79-9DC0726C033B

Q36841500-11C23D8E-3D31-4E6C-97DD-F0D91DE053F1

Q36841500-2AD69EAE-6673-4812-B880-5C0FBB973A99

Q36841500-32085CEC-07BC-4E26-A305-539471B47B3F

Q36841500-364D85D7-9C42-4EA3-A16A-0475A3B7397D

Q36841500-3B46EDE1-9EE3-4E16-8600-63DB6C878ACE

Q36841500-52BBF61D-9854-4AC5-B4D6-9967E6B0D492

Q36841500-54BB0F50-829E-4C07-B7CA-4CEAB8B3BE47

P304

Q36841500-EECF347E-A156-4B8B-8ED2-611E5696C48A

P31

Q36841500-369200E4-2783-41E9-B18D-E1F878E82B67

P356

Q36841500-4F37F8DB-3DC7-43B5-8830-425CEFD617E1

P407

Q36841500-04168D11-7420-4B9C-ACDA-0CDE8576468F

P433

Q36841500-E4399042-B7DF-4F76-80BC-B79405B0A3AE

P478

Q36841500-DA4AB2E5-8626-4711-BC06-81D11479FAEE

P50

Q36841500-824FB9B7-6DE9-441A-B223-188DDF44F742

Q36841500-B29162D0-6314-4D37-A2E3-DFDBC713F4B3

Q36841500-BBE90E84-3A70-4AFD-BB25-FA803BF3BFD5

Q36841500-F7698C3A-BEC2-490B-9323-F8CD2DC1AAB3

P577

Q36841500-E64F80FD-8F10-473B-9952-76AE76506C7B

P698

Q36841500-BF4C2EA7-EC85-4CD2-AEF3-8D587F22F194

P921

Q36841500-82625F88-2C2E-43A5-8D36-01ACE84E73AD

P932

Q36841500-19C235F7-13B2-4C71-8922-F16F654471D0

P356

WNL.0B013E31828727D4

P1433

P1476

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

@en

P2093

Amy Dressen

http://www.w3.org/2001/XMLSchema#string

Arpit Mehta

http://www.w3.org/2001/XMLSchema#string

Eden R Martin

http://www.w3.org/2001/XMLSchema#string

Gary W Beecham

http://www.w3.org/2001/XMLSchema#string

Karen Nuytemans

http://www.w3.org/2001/XMLSchema#string

Liyong Wang

http://www.w3.org/2001/XMLSchema#string

Vanessa Inchausti

http://www.w3.org/2001/XMLSchema#string

William K Scott

http://www.w3.org/2001/XMLSchema#string

P2860

A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

A method and server for predicting damaging missense mutations

P304

982-989

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1212/WNL.0B013E31828727D4

http://www.w3.org/2001/XMLSchema#string

P407

P433

11

http://www.w3.org/2001/XMLSchema#string

P478

80

http://www.w3.org/2001/XMLSchema#string

P50

Jeffery M. Vance

Stephan Züchner

Daniel D Kinnamon

P577

2013-02-13T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

23408866

http://www.w3.org/2001/XMLSchema#string

P921

Parkinson's disease

P932

3653206

http://www.w3.org/2001/XMLSchema#string