(Q29871482)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

title

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

Ran GTPase activating protein 1

22 February 2020

main subject

1 reference

RAN, member RAS oncogene family

GOA release 2020-03-11

1 reference

Ran GTPase activating protein Dmel_CG9999

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Christopher Donnelly

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Elizabeth Daley

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Kathleen M Cunningham

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Shu-Ling Chiu

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Michael J. Matunis

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Thomas E. Lloyd

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

19

Rita Sattler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

15

Richard L Huganir

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

13

Ingie Hong

1 reference

22 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

Ke Zhang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Aaron R Haeusler

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Jonathan C Grima

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

James B Machamer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Peter Steinwald

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Sean J Miller

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Svetlana Vidensky

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Saksham Gupta

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Michael A Thomas

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Lyle W Ostrow

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Jiou Wang

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

Jeffrey D Rothstein

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

26 August 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

number of pages

6

1 reference

inferred from page(s)

published in

Nature

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

volume

525

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

issue

7567

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

56-61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

describes a project that uses

22 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4800742/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

1 reference

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

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

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

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

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

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

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

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Age-dependent deterioration of nuclear pore complexes causes a loss of nuclear integrity in postmitotic cells

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

12 May 2017

1 reference

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An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases

12 May 2017

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

NTF2 mediates nuclear import of Ran.

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

RanGAP1 induces GTPase activity of nuclear Ras-related Ran

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Human RanGTPase-activating protein RanGAP1 is a homologue of yeast Rna1p involved in mRNA processing and transport

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

The ALS gene FUS regulates synaptic transmission at the Drosophila neuromuscular junction.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Nuclear trafficking in health and disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Identification of long-lived proteins reveals exceptional stability of essential cellular structures

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Genome-wide studies in multiple myeloma identify XPO1/CRM1 as a critical target validated using the selective nuclear export inhibitor KPT-276.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

A change in nuclear pore complex composition regulates cell differentiation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Conversion of mouse and human fibroblasts into functional spinal motor neurons

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

A Drosophila resource of transgenic RNAi lines for neurogenetics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Hot trends erupting in the nuclear transport field. Workshop on mechanisms of nuclear transport

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Caenorhabditis elegans nucleoporins Nup93 and Nup205 determine the limit of nuclear pore complex size exclusion in vivo

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Regulation of nuclear import and export by the GTPase Ran.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Segregation distortion induced by wild-type RanGAP in Drosophila

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Systems analysis of Ran transport

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

A conditional tissue-specific transgene expression system using inducible GAL4.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

A Drosophila complementary DNA resource

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Nuclear import of Ran is mediated by the transport factor NTF2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Calmodulin Point Mutations Affect Drosophila Development and Behavior

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

The maternally expressed Drosophila gene encoding the chromatin-binding protein BJ1 is a homolog of the vertebrate gene Regulator of Chromatin Condensation, RCC1

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Nuclear mislocalization of enzymatically active RanGAP causes segregation distortion in Drosophila

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Truncated RanGAP encoded by the Segregation Distorter locus of Drosophila

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800742

Nuclear contour irregularity and abnormal transporter protein distribution in anterior horn cells in amyotrophic lateral sclerosis

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26308891

12 December 2020

inferred from PubMed ID database lookup

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

1 reference

Crossref

https://api.crossref.org/works/10.1038/NATURE14973

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NATURE14973

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 February 2020

1050532957

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26308891 AND SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

26308891

2 references