Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - Wikidata - wikimedia - TriplyDB

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

http://www.wikidata.org/entity/Q35749838

about

J protein mutations and resulting proteostasis collapse Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay Ataxia.Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay High-Throughput Screening for Ligands of the HEPN Domain of Sacsin Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes Anticoagulation therapy is harmful to large-sized cerebellar infarction.Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Diversity of ARSACS mutations in French-Canadians.A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay Mitochondrial pathology in progressive cerebellar ataxia AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.Neurodegeneration: Trouble in the cell's powerhouse.Actin filaments target the oligomeric maturation of the dynamin GTPase Drp1 to mitochondrial fission sites.Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis.Inherited neuropathies: an update.Barcoding heat shock proteins to human diseases: looking beyond the heat shock response Ophthalmic manifestations of inherited neurodegenerative disorders.Disturbed mitochondrial dynamics and neurodegenerative disorders.Molecular chaperones and neuronal proteostasis.Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.Mitochondrial dynamics in neuronal injury, development and plasticity.Ataxia in children: early recognition and clinical evaluation.Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.The large conductance, calcium-activated K+ (BK) channel is regulated by cysteine string protein.Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.High expression of cytochrome b 5 reductase isoform 3/cytochrome b 5 system in the cerebellum and pyramidal neurons of adult rat brain.Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model.Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

P2860

Q21129474-7BEA281F-8CEA-4B13-A2EE-10FBCDFF45F2 Q27301278-87705919-EDC8-4F48-AC6D-5B46A6E83A8C Q27693329-759E1773-8094-4A30-9204-6D177425E031 Q28533920-0B294EA6-DBF2-4BB1-B26A-6B60AFA79014 Q28547923-3A623086-9E98-4AF6-AEBE-F882EB1D3706 Q28658594-0AB2EBB8-EDEE-4F78-992D-4E80D6F944A2 Q30832758-21651ACE-89FA-4192-950F-E5D708EFA626 Q33564675-74768405-B889-483D-9906-81BF0749766F Q34313405-F29DFF66-7F15-484E-BC83-F3941E93C202 Q34515343-12F84B80-3B2A-418D-BD48-818A689CCCE8 Q34530501-05DF504C-847E-4D4E-8A8E-F357179341B0 Q36348591-2D421993-3D0F-46BB-BACF-F2797096B274 Q36357926-5D25D17D-B621-4EDC-A596-AE82632A71FF Q36493503-DEA66F1F-7F19-4AB9-B848-EEB5ED25099D Q36560313-004E1C0C-62C8-431D-B0D7-B3F29187CBEF Q36585866-44B8DF12-EAC2-4339-9D24-F3843B03C47F Q36722770-2C3467B2-C3FF-446F-A8DC-7014DD19D96A Q36776172-CEA2720A-5A17-45CB-ACCC-57F4CC547D82 Q37466323-3E27F468-3026-4D21-AA26-D0E144E4AB75 Q37619548-88E0B83A-4ADA-4379-B722-251849098B85 Q37679933-62DD0DFB-D08D-41C0-BAD2-0F78ADE57FC7 Q38141876-90F2A0A0-7951-4A8A-A016-EA0AB4FB6265 Q38203487-2E620949-DE11-4548-A722-2A4BAEF5572C Q38212813-6B64CF31-5878-406E-8D9D-D3480B6A86AD Q38285228-C9C62125-7EF3-4AEE-90AE-457E1AD8C075 Q38377410-5D5DB1B3-5039-44C2-A9A7-4D05FC8629CC Q38584748-81E0C276-58CB-4EB9-9334-A86420145031 Q38768926-2052E98F-934D-449C-B928-87E7399386C0 Q39116596-C65A45EB-4B2D-433F-B0A5-266A3E718F31 Q39160132-E5136496-7888-4F37-B8DE-315475716EF3 Q39186332-2AC9DAE7-5956-4432-852C-0B4626582E28 Q39552099-47D45CE8-AFA7-4295-8422-84EE2710188D Q42484599-285436AF-D3E0-4D30-AB3C-D5942F3CF95D Q42555501-CBA4641A-D246-49FF-9470-00AA1EF90FCC Q42655753-D2AD6137-C9FB-4D99-9D55-99AF022F674A Q45057985-DBCCE709-D39A-4734-B04F-1A9C2666C909 Q46237931-D164910A-0495-4701-9432-17FCF8FC6DCD Q46747223-8A5F5E56-D8BE-4135-9DB9-714857C04EEE Q47108808-542F9B6D-F490-409F-AFEE-742D85A47DF3 Q47249910-2FD4D149-CE1A-49D7-B718-FB797C8A844C

P2860

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

http://www.wikidata.org/entity/Q35749838

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Mitochondrial dysfunction and ...... f Charlevoix-Saguenay (ARSACS)

@ast

Mitochondrial dysfunction and ...... f Charlevoix-Saguenay (ARSACS)

@en

type

label

Mitochondrial dysfunction and ...... f Charlevoix-Saguenay (ARSACS)

@ast

Mitochondrial dysfunction and ...... f Charlevoix-Saguenay (ARSACS)

@en

prefLabel

Mitochondrial dysfunction and ...... f Charlevoix-Saguenay (ARSACS)

@ast

Mitochondrial dysfunction and ...... f Charlevoix-Saguenay (ARSACS)

@en

P1433

Q35749838-93ED9C9D-2CFD-40C4-A8AE-4DB9ADD86B11

P1476

Q35749838-441AB6CD-F38A-4435-9580-ECE7B7938750

P2093

Q35749838-17C13F1A-3AEE-4409-A418-1EE95C1242A5

Q35749838-3212FD9B-D902-4EE3-AACC-33800879A8DA

Q35749838-4AF9646E-7C1D-4B1A-8CA3-86D90DABC811

Q35749838-6AA3E032-C96A-4600-AE8F-A2D9518AD8DE

Q35749838-6F599CD3-F14A-4D50-86BB-5CE5E6DECD63

Q35749838-A4A9F309-BFEA-4E24-90E8-6B6751D75CA0

Q35749838-A58737C8-50E4-4216-85D9-E491343551DC

Q35749838-B1853D69-0F31-4FC8-8EE8-6B8C3EDA2BDA

Q35749838-D0428C38-F5FE-488C-9578-ED7750833C39

Q35749838-D49096BB-25D6-41B0-AA1B-97C8F00D2D68

P2860

Q35749838-00B21A4B-4147-46CB-BD5F-BD73FDF2649F

Q35749838-01662CB8-7DD7-449B-9F64-E5F171518C51

Q35749838-0CE83841-737B-4832-98FF-049F8DD6368D

Q35749838-1411C530-C8E8-413F-BA8B-D8E6D9A66E94

Q35749838-1CBC082C-11D1-4CB3-9882-8C0C62987EF1

Q35749838-279E94E1-4E11-402D-87E1-3AD8ACA76631

Q35749838-27FA7E1C-7E25-4673-90A8-44848432A7D3

Q35749838-3D3CBDAE-229F-4D86-9C62-FC41382601AF

Q35749838-3DA6AFFB-57CE-4DB4-B08A-E9C909EED80F

Q35749838-3F633E69-5A7D-45F1-B913-BF77D3881800

P304

Q35749838-01B40694-CD95-44B2-A17A-C26FFB3800EB

P31

Q35749838-EBA26072-8A67-45EF-A277-5320C5C1E6EE

P356

Q35749838-60F2F20E-DF4F-4FFB-88F2-255E0B91B0DF

P407

Q35749838-5631CADD-F6A9-4AC8-9233-8491190EBE60

P433

Q35749838-BF94837B-EE15-4559-AAD6-41B06A022D43

P478

Q35749838-F70E2605-2CEB-4F16-AF24-62D7C293E6FE

P50

Q35749838-0C804E8F-DCC7-4069-9434-75B86E375AAB

Q35749838-0EC7029C-3D67-4AB0-BEB8-CF71C0863E95

Q35749838-1A714C2C-29C1-4E65-A09B-6D90994CDDB6

Q35749838-2D6D7FDE-EFC0-4700-9E4E-4E0A4333DC8F

Q35749838-96968890-CE08-4064-B01C-EC484E8885E2

P577

Q35749838-BCBF5E11-3F52-438B-AF8C-0A476452EB63

P5875

Q35749838-5F72150E-8094-4DB3-9016-F41F71ADC776

P698

Q35749838-80C0EA7B-C314-4230-A2F6-59A8A5FBC1C5

P921

Q35749838-5ABEBCD0-5507-49E8-B492-FE02116E97EC

Q35749838-FE326FB3-AAD5-49DF-87E4-18FBB6FBE6C7

P932

Q35749838-7E32EAC2-BF1C-4A52-B1BB-A7D86CED9FD1

P356

PNAS.1113166109

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Mitochondrial dysfunction and ...... f Charlevoix-Saguenay (ARSACS)

@en

P2093

David A Parfitt

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

Emily C Deane

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

Eric A Shoubridge

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

Esmeralda G M Vermeulen

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

Francois Blondeau

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

George Prenosil

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

J Paul Chapple

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

Martine Girard

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

Nadya Nossova

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

Peter S McPherson

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

P2860

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Dynamin-related protein Drp1 is required for mitochondrial division in mammalian cells

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

Amyloid-beta-induced neuronal dysfunction in Alzheimer's disease: from synapses toward neural networks

A human dynamin-related protein controls the distribution of mitochondria

P304

1661-1666

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

P31

scholarly article

P356

10.1073/PNAS.1113166109

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

P407

P433

5

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

P478

109

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

P50

Michael R. Duchen

Roxanne Larivière

Andrea M. Richter

P577

2012-01-17T00:00:00Z

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

P5875

221808147

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

P698

22307627

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

P921

Charlevoix-Saguenay spastic ataxia

P932

3277168

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