A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay-Reference-Cited by-同舟云学术

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A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Published:2016-06-10 Issue:15 Volume:25 Page:3232-3244
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Bradshaw Teisha Y.,Romano Lisa E.L.,Duncan Emma J.,Nethisinghe Suran,Abeti Rosella,Michael Gregory J.,Giunti Paola,Vermeer Sascha,Chapple J. Paul

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference35 articles.

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

2. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

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

4. Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

5. Bouchard J.P. (1991) Recessive Spastic Ataxia of Charlevoix-Saguenay. Elsevier Science, Amsterdam.

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1. A human microglial cell model of autosomal recessive spastic ataxia of Charlevoix-Saguenay;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-12

2. HDAC inhibitor SAHA resolved intermediate filament bundling and defective autophagy caused by the lack of sacsin in ARSACS.;2024-08-17

3. Predicting type 2 diabetes via machine learning integration of multiple omics from human pancreatic islets;Scientific Reports;2024-06-25

4. Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay;The Cerebellum;2024-05-13

5. Subcellular, biochemical and biophysical alterations in two glial cell models of ARSACS;2024-04-15

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