(Q34530501)

2 August 2017

title

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

1 reference

Charlevoix-Saguenay spastic ataxia

2 August 2017

main subject

0 references

author

Paul Chapple

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Teisha Y Bradshaw

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Lisa E L Romano

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Emma J Duncan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Suran Nethisinghe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Rosella Abeti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Gregory J Michael

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Paola Giunti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Sascha Vermeer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

language of work or name

English

0 references

publication date

10 June 2016

1 reference

2 August 2017

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

3232-3244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

The Organization of Mitochondrial Quality Control and Life Cycle in the Nervous System In Vivo in the Absence of PINK1.

8 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Mitochondrial dynamics in aging and disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

MitoTimer: a novel tool for monitoring mitochondrial turnover

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Tau promotes neurodegeneration via DRP1 mislocalization in vivo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Pink1 regulates the oxidative phosphorylation machinery via mitochondrial fission

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Conformational changes in Dnm1 support a contractile mechanism for mitochondrial fission

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

OXPHOS gene expression and control in mitochondrial disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Mitochondrial dynamics and neurodegeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Gene expression profiling of substantia nigra dopamine neurons: further insights into Parkinson's disease pathology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

A lethal defect of mitochondrial and peroxisomal fission

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Mitoenergetic failure in Alzheimer disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

Elevated reactive oxygen species and antioxidant enzyme activities in animal and cellular models of Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179924

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW173

Bioenergetic and proteolytic defects in fibroblasts from patients with sporadic Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW173

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW173

Gene expression profiles of metabolic enzyme transcripts in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW173

Electromyography and Nerve Conduction Studies in Friedreich's Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27288452

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDW173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27288452%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference