C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking (Q24337586)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

title

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

main subject

frontotemporal dementia

1 reference

C9orf72-SMCR8 complex subunit

24549040

1 reference

guanyl-nucleotide exchange factor activity

1 reference

RAB7, member RAS oncogene family

1 reference

C9orf72, member of C9orf72-SMCR8 complex

1 reference

Ubiquilin 2

1 reference

RAB1A, member RAS oncogene family

1 reference

amyotrophic lateral sclerosis

1 reference

24549040

endosome

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

Shu Yang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

Rachel Atkinson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

Paul A. Gleeson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

Ian P Blair

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

Anna E. King

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

Julie D Atkin

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

1

Manal A Farg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

3

Jessica M Sultana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

6

Vita Levina

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

author name string

Mark A Halloran

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

Kai Y Soo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

English

0 references

publication date

18 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

published in

Human Molecular Genetics

1 reference

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8 March 2020

volume

23

1 reference

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8 March 2020

issue

13

1 reference

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8 March 2020

page(s)

3579-3595

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

8 March 2020

cites work

1 reference

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

19 March 2017

1 reference

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

19 March 2017

1 reference

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Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

19 March 2017

1 reference

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Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseases

19 March 2017

1 reference

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

19 March 2017

1 reference

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TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes

19 March 2017

1 reference

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

19 March 2017

1 reference

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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Autophagosome formation depends on the small GTPase Rab1 and functional ER exit sites

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

The trans-Golgi network golgin, GCC185, is required for endosome-to-Golgi transport and maintenance of Golgi structure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Phagosomes fuse with late endosomes and/or lysosomes by extension of membrane protrusions along microtubules: role of Rab7 and RILP

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Regulation of small GTPases by GEFs, GAPs, and GDIs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Feature-based prediction of non-classical and leaderless protein secretion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Rab7: a key to lysosome biogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Role for Rab7 in maturation of late autophagic vacuoles

10 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Extracellular wildtype and mutant SOD1 induces ER-Golgi pathology characteristic of amyotrophic lateral sclerosis in neuronal cells.

10 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Stress granules as crucibles of ALS pathogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease features compared to wild-type human TDP-43 mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Heterogeneous nuclear ribonucleoprotein A1 in health and neurodegenerative disease: from structural insights to post-transcriptional regulatory roles.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

27 September 2017

1 reference

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Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

The actin cytoskeleton participates in the early events of autophagosome formation upon starvation induced autophagy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Low dose proteasome inhibition affects alternative splicing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Chronic excitotoxin-induced axon degeneration in a compartmented neuronal culture model

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Neuropathological background of phenotypical variability in frontotemporal dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Proteasome inhibitors induce nucleolar aggregation of proteasome target proteins and polyadenylated RNA by altering ubiquitin availability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

The evolutionarily conserved interaction between LC3 and p62 selectively mediates autophagy-dependent degradation of mutant huntingtin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Discovery of Atg5/Atg7-independent alternative macroautophagy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Dynein dysfunction induces endocytic pathology accompanied by an increase in Rab GTPases: a potential mechanism underlying age-dependent endocytic dysfunction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

hnRNP A1 relocalization to the stress granules reflects a role in the stress response.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

A novel endocytic recycling signal distinguishes biological responses of Trk neurotrophin receptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Targeting Rab GTPases to distinct membrane compartments

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Ubiquilin at a crossroads in protein degradation pathways

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

Localization of glutamate receptors in developing cortical neurons in culture and relationship to susceptibility to excitotoxicity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4049310

FTD/ALS families are no longer orphaned: the C9ORF72 story

30 May 2018

1 reference

Rab7 is required for the normal progression of the autophagic pathway in mammalian cells

21 January 2018

1 reference

Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity

21 January 2018

1 reference

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

21 January 2018

1 reference

Transactivation of Trk neurotrophin receptors by G-protein-coupled receptor ligands occurs on intracellular membranes.

21 January 2018

1 reference

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

21 January 2018

1 reference

Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24549040

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDU068

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json

8 March 2020

24549040

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24549040 AND SRC:MED&resulttype=core&format=json