Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease - Wikidata - wikimedia - TriplyDB

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

http://www.wikidata.org/entity/Q28205752

about

sameAs

The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formation Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients Genetics of Parkinson disease NUB1 suppresses the formation of Lewy body-like inclusions by proteasomal degradation of synphilin-1 Beta-synuclein gene alterations in dementia with Lewy bodies.Genetically engineered mouse models of Parkinson's disease Subgroup-specific structural variation across 1,000 medulloblastoma genomes Parkinson disease loci in the mid-western Amish An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25 Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease Considerations on the role of environmental toxins in idiopathic Parkinson's disease pathophysiology Synphilin-1 enhances α-synuclein aggregation in yeast and contributes to cellular stress and cell death in a Sir2-dependent manner Synphilin-1 attenuates neuronal degeneration in the A53T alpha-synuclein transgenic mouse model Drosophila histone deacetylase 6 protects dopaminergic neurons against {alpha}-synuclein toxicity by promoting inclusion formation.Regulation of alpha-synuclein expression: implications for Parkinson's disease.Splicing variants of porcine synphilin-1 Clinical approach to Parkinson's disease: features, diagnosis, and principles of management.Mitochondrial Quality Control via the PGC1α-TFEB Signaling Pathway Is Compromised by Parkin Q311X Mutation But Independently Restored by Rapamycin Splicing: is there an alternative contribution to Parkinson's disease?Drug discovery in Parkinson's disease-Update and developments in the use of cellular models.Chronic dementing conditions, genomics, and new opportunities for nursing interventions.The dopaminergic nigrostriatal system and Parkinson's disease: molecular events in development, disease, and cell death, and new therapeutic strategies.Genetics of Parkinson disease.Review: Familial Parkinson's disease--genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease.Molecular pathology of Lewy body diseases.Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease.Allosteric function and dysfunction of the prion protein.Parkinson's disease: from genetics to treatments.Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients.Parkinson's disease: genetics and beyond.Monoubiquitylation of alpha-synuclein by seven in absentia homolog (SIAH) promotes its aggregation in dopaminergic cells.Genetics of Parkinson's disease and parkinsonism.Glycogen synthase kinase 3beta modulates synphilin-1 ubiquitylation and cellular inclusion formation by SIAH: implications for proteasomal function and Lewy body formation.Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).Merging mouse transcriptome analyses with Parkinson's disease linkage studies.In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1.Effect of proteasome inhibitors with different chemical structures on the ubiquitin-proteasome system in vitro.Size and morphology of toxic oligomers of amyloidogenic proteins: a case study of human stefin B.Caspase-3-derived C-terminal product of synphilin-1 displays antiapoptotic function via modulation of the p53-dependent cell death pathway.Rare Neurodegenerative Diseases: Clinical and Genetic Update.

P2860

Q24307589-67626794-D717-4716-9D8A-2161C50D112C Q24314275-F7D4951C-2C7C-4B82-B3F0-FA941E85A807 Q24558967-BC8BAEE8-79E0-48EB-AED4-176BD9CAFC85 Q24671360-B891F034-F9D0-4D61-9571-8DF77D02B322 Q24684579-DF97A5DA-1162-47CF-B6F7-8B6797E9B8E0 Q26852964-6D7052EE-A691-415F-BD0C-9CD9372F903F Q28271811-814BDFCA-AEBC-4941-BD3A-C76208B564E5 Q28943294-3AA1B7A5-88AD-470C-A28C-A8A4931C7072 Q33321350-1BD11881-6611-4351-A2F7-A69C658A1355 Q33375794-9AC8AA17-8D36-4491-AC29-45C6C5FF9099 Q33603777-7CD73E67-F622-41BB-ABE5-8EA7853462AC Q33742140-53A5456C-CC66-4C8A-811A-3D38A804C5AA Q33832846-159E5CFD-6B85-432C-B840-ECEAFB31EBF2 Q33948478-26DDFCC9-2AEB-4EDF-B878-033783BA4FD8 Q34344563-2EF49A31-6738-49F9-86DC-D08F1C727D35 Q35745078-824AE7DC-66B5-4BE4-A6BF-6EDCA482EC99 Q36009241-D57186AD-562D-4ED0-BE0B-832D2911A68E Q36064409-246036A9-1410-4FB6-8CF9-5DEABD8DC1AC Q36069844-A38CABC1-63E5-4A98-BEDC-8FDFF8D4E6AA Q36680414-CD72780B-FC92-4363-AAE4-069B6DF21F08 Q36688830-8BC26E23-5BB0-4C8D-80DB-2D22760FA08E Q36709957-1A03DC81-3684-4D7E-8CE0-A4989C332666 Q37037053-E0A0EF6B-951A-430E-8992-5C607607C59B Q37151410-A1E8C141-3E9E-4D7D-AAF9-AE69EA367AAD Q37462203-350D1EF7-C3B4-4615-8DA9-2060CD01C7DD Q37681819-57EDF5FE-5A71-47A0-BB09-800A1FC43C93 Q37943799-19E8FBDC-08DD-4A57-9509-492D2F7559EA Q38057859-12F2940C-1AA8-4F7D-987F-C328CA52052E Q38503340-E6BA30D3-131A-452F-82A8-39C40AFB5B36 Q39416222-2391F473-8940-4191-8521-C611CFC68711 Q40037116-66F52D10-B7F4-4CBA-992F-6278F1A435B0 Q40204484-83022E8A-6F7C-4CC6-B9E4-A69CDC7CBAE7 Q40370849-B1732828-9274-49B5-8C76-0C85BD50F389 Q40515980-2A475350-2A60-493F-981A-520CCD3D5A4C Q41902132-A85F12EA-F3A4-42B6-9EAE-15F04C352194 Q43057871-3FFC9613-4CCA-4F40-8DC8-8112C3C37B5F Q43177689-6E64A95B-AD9E-4D48-B9C5-22E7AB99992F Q43477001-3A781E4F-34EE-47BA-A611-D4C2FF43B60F Q46958208-C34CB1FD-7786-4C53-93F6-F9186BD731C1 Q47928785-62D05221-500C-4E35-8779-8F7CF48C5A86

P2860

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

http://www.wikidata.org/entity/Q28205752

description

2003 nî lūn-bûn

@nan

2003 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Identification and functional ...... -1 gene in Parkinson's disease

@ast

Identification and functional ...... -1 gene in Parkinson's disease

@en

Identification and functional ...... -1 gene in Parkinson's disease

@nl

type

label

Identification and functional ...... -1 gene in Parkinson's disease

@ast

Identification and functional ...... -1 gene in Parkinson's disease

@en

Identification and functional ...... -1 gene in Parkinson's disease

@nl

prefLabel

Identification and functional ...... -1 gene in Parkinson's disease

@ast

Identification and functional ...... -1 gene in Parkinson's disease

@en

Identification and functional ...... -1 gene in Parkinson's disease

@nl

P1433

Q28205752-734A126E-0A12-4502-9C5C-2183FF19144E

P1476

Q28205752-D794F221-A26E-4834-9BF8-1A9E486E68D4

P2093

Q28205752-1B20F2DB-8D40-4A6C-B251-0E2C1E6A6222

Q28205752-2672FFF7-D056-4797-83ED-A08280B833F7

Q28205752-3EE53F20-858A-4DBB-BE8F-2BBDFC9AD984

Q28205752-4A43A60C-AF5F-43FC-901A-8007664C2994

Q28205752-581F2973-993B-4AFF-8E9A-35574C65DD0D

Q28205752-5BBA6498-115E-4B74-9042-F1B56404EF69

Q28205752-892BB7C5-EB79-4BA3-A919-46DA1FCE7254

Q28205752-C0C580BF-0CC0-479D-A32F-39E4DCF4B173

Q28205752-DC06E088-80C1-4AC3-84DC-3CDAC221E2EE

Q28205752-E01B3B4A-65BB-47AC-AC72-4AB918187BF8

P304

Q28205752-ED3F8BB4-1132-463F-A545-74D24B98E4DA

P31

Q28205752-E6F5732D-F66F-45C3-8496-C77D18E19647

P356

Q28205752-AC485CB2-78B0-4452-9F83-DAA4D5C72BE1

P407

Q28205752-384B08DB-753A-4475-83A7-D31CE1D744CD

P433

Q28205752-7AF4AA2F-7F44-46A8-A52B-327BA884372F

P478

Q28205752-EE141982-49EB-437F-B5EA-87D49DDB6CB0

P50

Q28205752-365B2D5B-798A-445A-B3A6-64017072011E

Q28205752-6037CE43-25C3-4E8F-8C6B-472BBADB71C6

Q28205752-62ACFBD8-DB93-4125-8DC3-68F81AB32848

Q28205752-90615E93-4FD4-4E93-B1B6-CB5EDA2C2539

Q28205752-EAC849D5-0FCD-41B7-80C8-4A67E6CA4834

Q28205752-FDD50CF9-6FC8-4D61-94F4-D7B8CEE9A7B6

P577

Q28205752-3210549A-92E3-4670-9425-52C39E32162C

P5875

Q28205752-705E21F4-9B6B-4CA0-978D-D2A3D4452E79

P698

Q28205752-E9687505-0461-44C8-A7C2-0B7B3FCE607C

P921

Q28205752-3680E925-8EF8-4AD3-B731-762BF912E4AE

P356

P1433

Human Molecular Genetics

P1476

Identification and functional ...... -1 gene in Parkinson's disease

@en

P2093

Carsten Holzmann

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

Dena Hernandez

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

Ellen Gerhardt

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

Frank P Marx

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

Jennifer Kachergus

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

Karsten M Strauss

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

Klaus Berger

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

Lei Li

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

Matt J Farrer

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

Olaf Eberhardt

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

P304

1223-31

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

P31

scholarly article

P356

10.1093/HMG/DDG134

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

P407

P433

11

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

P478

12

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

P50

Christopher A Ross

P577

2003-06-01T00:00:00Z

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

P5875

10748465

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

P698

12761037

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

P921

Parkinson's disease