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The Enigmatic Role of C9ORF72 in Autophagy
scientific article published on 3 August 2017
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scholarly article
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Europe PubMed Central
PMC publication ID
5541066
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
title
The Enigmatic Role of C9ORF72 in Autophagy
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
main subject
autophagy
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author
Melissa Nassif
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
Ute Woehlbier
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2
1 reference
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Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
author name string
Patricio A Manque
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3
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Europe PubMed Central
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5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
publication date
3 August 2017
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Europe PubMed Central
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5541066
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
published in
Frontiers in Neuroscience
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stated in
Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
volume
11
1 reference
stated in
Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
page(s)
442
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Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans
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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
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28 September 2017
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28 September 2017
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28 September 2017
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Motor neuron diversity in development and disease
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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
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28 September 2017
A gene network regulating lysosomal biogenesis and function
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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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28 September 2017
Screening for replication of genome-wide SNP associations in sporadic ALS
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28 September 2017
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
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28 September 2017
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
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28 September 2017
Loss of autophagy in the central nervous system causes neurodegeneration in mice
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28 September 2017
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
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28 September 2017
p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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28 September 2017
Role for Rab7 in maturation of late autophagic vacuoles
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28 September 2017
The ubiquitin system
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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28 September 2017
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
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28 September 2017
C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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14 June 2018
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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14 June 2018
Misfolded SOD1 is not a primary component of sporadic ALS.
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19 August 2018
C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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19 August 2018
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.
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19 August 2018
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.
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19 August 2018
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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19 August 2018
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.
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19 August 2018
Rab8 modulates metabotropic glutamate receptor subtype 1 intracellular trafficking and signaling in a protein kinase C-dependent manner
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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19 August 2018
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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19 August 2018
Rab7 is required for the normal progression of the autophagic pathway in mammalian cells
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5541066
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19 August 2018
Autophagy: many paths to the same end.
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21 January 2018
TFEB regulates autophagy: An integrated coordination of cellular degradation and recycling processes
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21 January 2018
Identifiers
DOI
10.3389/FNINS.2017.00442
1 reference
stated in
Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
PMC publication ID
5541066
1 reference
stated in
Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
PubMed publication ID
28824365
1 reference
stated in
Europe PubMed Central
PMC publication ID
5541066
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28824365%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 March 2020
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