Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling (Q29465544)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27875531 AND SRC:MED&resulttype=core&format=json

28 March 2020

title

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling (English)

1 reference

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Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)

28 March 2020

main subject

autophagy

0 references

1 reference

C9orf72, member of C9orf72-SMCR8 complex

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Raja Sekhar Nirujogi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27875531 AND SRC:MED&resulttype=core&format=json

28 March 2020

Akhilesh Pandey

6

1 reference

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28 March 2020

Anne Hamacher-Brady

8

1 reference

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28 March 2020

Jiou Wang

9

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28 March 2020

author name string

Janet Ugolino

1

1 reference

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28 March 2020

Yon Ju Ji

2

1 reference

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28 March 2020

Karen Conchina

3

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28 March 2020

Justin Chu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27875531 AND SRC:MED&resulttype=core&format=json

28 March 2020

Nathan R Brady

7

1 reference

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28 March 2020

publication date

22 November 2016

1 reference

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28 March 2020

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28 March 2020

volume

12

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28 March 2020

issue

11

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28 March 2020

page(s)

e1006443

1 reference

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Creative Commons Attribution 4.0 International

28 March 2020

copyright license

start time

22 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5119725/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

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C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

18 April 2017

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Time course decomposition of cell heterogeneity in TFEB signaling states reveals homeostatic mechanisms restricting the magnitude and duration of TFEB responses to mTOR activity modulation

18 April 2017

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The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

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Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

18 April 2017

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

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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

18 April 2017

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

18 April 2017

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

18 April 2017

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18 April 2017

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mTOR signaling in growth control and disease

18 April 2017

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

18 April 2017

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

18 April 2017

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A gene network regulating lysosomal biogenesis and function

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Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

18 April 2017

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In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker

18 April 2017

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The role of autophagy in neurodegenerative disease

18 April 2017

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TFEB links autophagy to lysosomal biogenesis

18 April 2017

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Mutations of optineurin in amyotrophic lateral sclerosis

18 April 2017

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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

18 April 2017

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Role for Rab7 in maturation of late autophagic vacuoles

18 April 2017

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Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

21 May 2017

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The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

3 June 2018

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Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

3 June 2018

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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

3 June 2018

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C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

3 June 2018

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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

3 June 2018

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C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

3 June 2018

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3 June 2018

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

3 June 2018

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3 June 2018

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3 June 2018

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Low protein intake is associated with a major reduction in IGF-1, cancer, and overall mortality in the 65 and younger but not older population.

3 June 2018

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

3 June 2018

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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

3 June 2018

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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

3 June 2018

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

3 June 2018

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3 June 2018

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

3 June 2018

1 reference

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The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1.

3 June 2018

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Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases

3 June 2018

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Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

3 June 2018

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Signals from the lysosome: a control centre for cellular clearance and energy metabolism

3 June 2018

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

3 June 2018

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Modulation of serines 17 and 24 in the LC3-interacting region of Bnip3 determines pro-survival mitophagy versus apoptosis

3 June 2018

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3 June 2018

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Quantitation of autophagy by luciferase release assay.

3 June 2018

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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

3 June 2018

1 reference

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C9orf72 is required for proper macrophage and microglial function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1006443

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1006443

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1006443

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1006443

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PGEN.1006443

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5119725

10.1371/JOURNAL.PGEN.1006443

26 November 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27875531 AND SRC:MED&resulttype=core&format=json

28 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27875531 AND SRC:MED&resulttype=core&format=json

28 March 2020

PubMed publication ID

27875531

1 reference