(Q35749838)

10 August 2017

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

1 reference

Charlevoix-Saguenay spastic ataxia

10 August 2017

0 references

1 reference

13

1 reference

10 August 2017

Michael R Duchen

10

0 references

Bernard Brais

15

object named as

Bernard Brais

0 references

Roxanne Larivière

2

object named as

Roxanne Larivière

0 references

Andrea M. Richter

11

object named as

Andrea Richter

1 reference

10 August 2017

Martine Girard

1

1 reference

10 August 2017

David A Parfitt

3

1 reference

10 August 2017

Emily C Deane

4

1 reference

10 August 2017

Rebecca Gaudet

5

1 reference

10 August 2017

Nadya Nossova

6

1 reference

10 August 2017

Francois Blondeau

7

1 reference

10 August 2017

George Prenosil

8

1 reference

10 August 2017

Esmeralda G M Vermeulen

9

1 reference

10 August 2017

Eric A Shoubridge

12

1 reference

10 August 2017

R Anne McKinney

14

1 reference

10 August 2017

J Paul Chapple

16

1 reference

10 August 2017

Peter S McPherson

17

1 reference

10 August 2017

language of work or name

English

0 references

publication date

17 January 2012

1 reference

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

10 August 2017

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

10 August 2017

109

1 reference

10 August 2017

5

1 reference

10 August 2017

1661-1666

1 reference

Mitochondria: the next (neurode)generation

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mitochondrial fusion and fission in cell life and death

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mitochondrial trafficking and the provision of energy and calcium buffering at excitatory synapses

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Early synaptic pathophysiology in neurodegeneration: insights from Huntington's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Physiological functions of mitochondrial fusion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Analysis of mitochondrial dynamics and functions using imaging approaches

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Control of mitochondrial transport and localization in neurons.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Abnormal mitochondrial dynamics and neurodegenerative diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Impaired balance of mitochondrial fission and fusion in Alzheimer's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

An RNAi screen for mitochondrial proteins required to maintain the morphology of the organelle in Caenorhabditis elegans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mitochondria: more than just a powerhouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Purkinje cell death: differences between developmental cell death and neurodegenerative death in mutant mice.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

A human dynamin-related protein controls the distribution of mitochondria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

The reconstruction of cerebellar circuits

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

The neurodegenerative-disease-related protein sacsin is a molecular chaperone.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Is the ataxia of Charlevoix-Saguenay a developmental disease?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mutations in SACS cause atypical and late-onset forms of ARSACS.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Mitochondrial dynamics in cell death and neurodegeneration

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

The Connecdenn DENN domain: a GEF for Rab35 mediating cargo-specific exit from early endosomes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

A hyperfused mitochondrial state achieved at G1-S regulates cyclin E buildup and entry into S phase

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Physiology versus pathology in Parkinson's disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Synaptic mitochondria are critical for mobilization of reserve pool vesicles at Drosophila neuromuscular junctions

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Regulation of mitochondrial morphology by membrane potential, and DRP1-dependent division and FZO1-dependent fusion reaction in mammalian cells

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Neonatal identification of pituitary aplasia: a life-saving diagnosis. Review of five cases

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1113166109

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277168

Inhibiting Drp1-mediated mitochondrial fission selectively prevents the release of cytochrome c during apoptosis

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22307627

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1113166109

1 reference

10 August 2017

0 references

1 reference

10 August 2017

1 reference