Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. - Wikidata - wikimedia - TriplyDB

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

http://www.wikidata.org/entity/Q30440991

about

Parkinson's disease: from monogenic forms to genetic susceptibility factors Mitochondrial dynamics and mitophagy in Parkinson's disease: disordered cellular power plant becomes a big deal in a major movement disorder Drosophila HtrA2 is dispensable for apoptosis but acts downstream of PINK1 independently from Parkin Genetic susceptibility in Parkinson's disease Lack of replication of association between GIGYF2 variants and Parkinson disease.Novel mitochondrial substrates of omi indicate a new regulatory role in neurodegenerative disorders.Caenorhabditis elegans: a model to investigate oxidative stress and metal dyshomeostasis in Parkinson's disease Unravelling the role of defective genes.The effectiveness of opioid substitution treatments for patients with opioid dependence: a systematic review and multiple treatment comparison protocol.Mitochondrial and Cell Death Mechanisms in Neurodegenerative Diseases.Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1.Neural-specific deletion of Htra2 causes cerebellar neurodegeneration and defective processing of mitochondrial OPA1.Drosophila models of Parkinson's disease: discovering relevant pathways and novel therapeutic strategies.Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function.Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria.Altered enzymatic activity and allele frequency of OMI/HTRA2 in Alzheimer's disease Mitochondrial dynamics and Parkinson's disease: focus on parkin.Biology of mitochondria in neurodegenerative diseases.A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease.Drosophila as a model to study mitochondrial dysfunction in Parkinson's disease.Genetic variation of Omi/HtrA2 and Parkinson's disease Loss-of-function analysis suggests that Omi/HtrA2 is not an essential component of the PINK1/PARKIN pathway in vivo Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis.Emerging pathways in genetic Parkinson's disease: autosomal-recessive genes in Parkinson's disease--a common pathway?Mitochondrial dynamics in Parkinson's disease.Genetic insights into sporadic Parkinson's disease pathogenesis.Genetics of Parkinson disease and essential tremor Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.The PARL family of mitochondrial rhomboid proteases.Mitochondrial protein quality control in health and disease.Mitochondrial proteomics as a selective tool for unraveling Parkinson's disease pathogenesis.Mitochondria, calcium, and endoplasmic reticulum stress in Parkinson's disease.Mitochondrial quality control: a matter of life and death for neurons.Insights into mitochondrial quality control pathways and Parkinson's disease.Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia Epigenetics in Parkinson's Disease.m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration.

P2860

Q22242870-D40B288D-9C9D-46D4-A6BC-5ED4FF03AC1D Q27001551-73173F43-C297-4AE8-999F-76C5220FB765 Q28752238-B6EEBC23-C93F-4B8B-A227-FC34792D0F4F Q30435626-451D0C7E-62FB-4748-8E7C-278544757830 Q30437358-2BEC91F8-0148-4AF5-85AE-1775AAC10BFF Q33504585-3AB221FF-C8B8-440E-92B7-FEC3E15D4D0D Q33658107-D0446E75-FE24-49C6-963E-90C344A68B00 Q34201811-47B9C34B-4FAA-4A3D-8040-9A1712225659 Q34226309-D67B12B0-4C3E-4BBA-A061-140C8E87DDDE Q34502221-93C3A509-9776-4E68-BFC0-491DA174AE72 Q34713631-4AB1E697-5FB4-4C78-96CC-8DA80FE8FFF5 Q34758274-EA2E12D5-7E6E-4A0E-B63A-E124BB8311A0 Q34787767-EB55F765-FDC7-4B09-9BF0-E89D98A1A09F Q34792986-B23198AE-D98D-4C59-A96F-5C4637CFE9CB Q35315489-97E8DF6A-6CAF-4064-90C5-EFD3CC426F22 Q35544534-330648E5-0798-43B8-AE03-4DCD94C2DF9B Q35585384-BD823E5B-DFBD-4A13-9962-CCDB1A8AB851 Q35799161-643DCDAE-07C0-4274-B9F1-CB2C8D2CB60A Q36488715-C6074AC8-27D4-4AC1-A2D1-F80DA4600438 Q36494703-626FE077-F391-4395-B2E3-5DC0871AC990 Q36526622-23634D5A-BBEF-4CA3-B89B-AFBC4F612A40 Q37037500-697A163C-ACAE-44FC-B94E-1E45F6EB0508 Q37281615-CECDD793-9760-45DA-8D31-244806A32BC9 Q37315448-BAF7C96D-00BF-4452-B6CA-F865CF1E68DE Q37330543-1D53ABEB-A93A-4DEF-967C-9809AE6985AB Q37364337-A6954DF1-4C00-4F05-BEFD-38E4C8A77CD1 Q37583402-0A494F35-4E38-498B-86AC-0EC5B0CE730C Q37594762-FCDD81BF-B784-4ECA-A214-D074DF28A6C8 Q37627534-22BC6F2B-AEF5-4E71-8B62-0F10937E1F3D Q37666154-CC5110BB-EECB-44D8-AAEF-A414452D64E1 Q37686252-74FA18CE-CA54-43CD-9584-8B2CEB555594 Q37727186-2062ED0D-DB2D-405B-953F-51AD5FCA986E Q37889815-DA168A90-C5C5-4F33-BC69-D0377A634C85 Q37987023-2B07560E-710E-4C47-87A5-A0B7682DADCF Q38104226-E6F7EE15-7FFC-49C2-B64C-B9BEF1E4900D Q38115298-4D411C42-1818-4274-AB90-5CD783CE9433 Q41924560-98AF6616-7CAB-4732-8B77-5FBE0CD20FC2 Q42562233-552FFADA-8A60-4F03-9C59-CF8C39A32201 Q47320399-5EBB908F-370C-4765-B3A3-0AB8041FFDC9 Q49939367-D4027746-FE66-4577-9E6B-922D6E012522

P2860

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

http://www.wikidata.org/entity/Q30440991

description

2008 nî lūn-bûn

@nan

2008 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի մարտին հրատարակված գիտական հոդված

@hy

2008年の論文

@ja

2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

Sequencing analysis of OMI/HTR ...... eurologically normal controls.

@ast

Sequencing analysis of OMI/HTR ...... eurologically normal controls.

@en

type

label

Sequencing analysis of OMI/HTR ...... eurologically normal controls.

@ast

Sequencing analysis of OMI/HTR ...... eurologically normal controls.

@en

prefLabel

Sequencing analysis of OMI/HTR ...... eurologically normal controls.

@ast

Sequencing analysis of OMI/HTR ...... eurologically normal controls.

@en

P1433

Q30440991-0D75C53A-EDDE-4C31-B320-76491607CE00

P1476

Q30440991-A9E73F25-8156-4B02-BAB6-61CF250370EB

P2093

Q30440991-AEE19B8B-4D04-464E-8B0A-B98C45C40730

P2860

Q30440991-05515AB5-BADB-4BF3-AC1F-D5BD4EAF3206

Q30440991-0F8B7CF8-4F32-476B-9412-03BCA497AFEF

Q30440991-1C5914B7-E46F-4ABE-A651-39F83D3BADE6

Q30440991-370A370B-3EB5-41A7-B2F4-5A86D6E42686

Q30440991-3D890F0D-DCB5-4F35-AD47-5E20F6B01D32

Q30440991-431F7D3D-BB54-4F7D-8C13-B37E13C7E5FE

Q30440991-53051D5E-36CE-433F-8075-2F747F110232

Q30440991-58343022-DF55-4EDB-B50E-EF839215E935

Q30440991-68BD7EC9-4EB0-4BE3-9722-E9C6F48CFF72

Q30440991-7BA29D7F-2A13-45E5-AA44-90F0B1E523C8

P304

Q30440991-A3CF201A-6C20-4026-966E-D0AC9FC38ECE

P31

Q30440991-A2060143-C7E5-45A0-9E87-7FEE78275B15

P356

Q30440991-8A02A3CF-EEB9-4C24-9A7C-B8E5A5E15171

P433

Q30440991-E2939200-2893-481B-B54C-7B3FAC5BD0EB

P478

Q30440991-3C7CDCEA-0CCA-48DD-9142-298518B2CB4B

P50

Q30440991-6FFDEEA1-CB47-40E8-8951-83099F019CAB

P577

Q30440991-6749E0A0-0018-41F6-9F8E-90D4D6EFE5AA

P5875

Q30440991-4599AACF-DEB8-4FEC-B47C-5AAF6D5869C6

P698

Q30440991-E185CF3C-E7F7-481B-85A9-468819C2B9EC

P932

Q30440991-8A8E52E9-1043-400F-A60B-68D0935817EF

P356

P1433

Human Molecular Genetics

P1476

Sequencing analysis of OMI/HTR ...... eurologically normal controls.

@en

P2093

Javier Simón-Sánchez

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

P2860

Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

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

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

PLINK: a tool set for whole-genome association and population-based linkage analyses

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

alpha-Synuclein locus triplication causes Parkinson's disease

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice

P304

1988-1993

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

P31

scholarly article

P356

10.1093/HMG/DDN096

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

P433

13

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

P478

17

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

P50

Andrew Singleton

P577

2008-03-25T00:00:00Z

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

P5875

5488849

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

P698

18364387

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

P932

2574854

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