C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins (Q37476206)

20 August 2017

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins (English)

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20 August 2017

34

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20 August 2017

Clotilde Lagier-Tourenne

25

Clotilde Lagier-Tourenne

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Aliesha Garrett

Aliesha Garrett

12

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Melissa E. Murray

Melissa E Murray

9

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Don W. Cleveland

Don W Cleveland

27

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Leonard Petrucelli

36

Leonard Petrucelli

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20 August 2017

26

Dieter Edbauer

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20 August 2017

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Rosa Rademakers

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20 August 2017

Yong-Jie Zhang

1

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20 August 2017

Tania F Gendron

2

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Jonathan C Grima

3

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20 August 2017

Hiroki Sasaguri

4

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20 August 2017

Karen Jansen-West

5

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20 August 2017

Ya-Fei Xu

6

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Rebecca B Katzman

7

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Jennifer Gass

8

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Mitsuru Shinohara

10

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Wen-Lang Lin

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Jeannette N Stankowski

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Lillian Daughrity

14

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Jimei Tong

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Emilie A Perkerson

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Mei Yue

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Jeannie Chew

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Monica Castanedes-Casey

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Aishe Kurti

20

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Zizhao S Wang

21

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Amanda M Liesinger

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Jeremy D Baker

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Jie Jiang

24

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Kevin B Boylan

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Guojun Bu

30

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Christopher D Link

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Chad A Dickey

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Jeffrey D Rothstein

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John D Fryer

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20 August 2017

language of work or name

English

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publication date

21 March 2016

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20 August 2017

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668-677

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20 August 2017

5

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https://scigraph.springernature.com/pub.10.1038/nn.4272

20 August 2017

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Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

23 August 2017

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Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

23 August 2017

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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

23 August 2017

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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

23 August 2017

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Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

23 August 2017

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Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

23 August 2017

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Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death

23 August 2017

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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

23 August 2017

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

23 August 2017

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

23 August 2017

1 reference

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Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

23 August 2017

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C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

23 August 2017

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Severe amygdala dysfunction in a MAPT transgenic mouse model of frontotemporal dementia

23 August 2017

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Mechanisms of toxicity in C9FTLD/ALS.

23 August 2017

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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

23 August 2017

1 reference

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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

23 August 2017

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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

23 August 2017

1 reference

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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

23 August 2017

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Capsid serotype and timing of injection determines AAV transduction in the neonatal mice brain

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Aggregation formation in the polyglutamine diseases: protection at a cost?

23 August 2017

1 reference

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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Brain regional correlation of amyloid-β with synapses and apolipoprotein E in non-demented individuals: potential mechanisms underlying regional vulnerability to amyloid-β accumulation

23 August 2017

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Viral transduction of the neonatal brain delivers controllable genetic mosaicism for visualising and manipulating neuronal circuits in vivo

23 August 2017

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A quantitative postmortem MRI design sensitive to white matter hyperintensity differences and their relationship with underlying pathology

23 August 2017

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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Immunoelectron microscopic and biochemical studies of caspase-cleaved tau in a mouse model of tauopathy

23 August 2017

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

23 August 2017

1 reference

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The role of XPC: implications in cancer and oxidative DNA damage

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Pom121 links two essential subcomplexes of the nuclear pore complex core to the membrane

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Involvement of nucleotide excision and mismatch repair mechanisms in double strand break repair

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Single homopolypeptide chains collapse into mechanically rigid conformations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

The ubiquitin receptor Rad23: at the crossroads of nucleotide excision repair and proteasomal degradation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

The potential for beta-structure in the repeat domain of tau protein determines aggregation, synaptic decay, neuronal loss, and coassembly with endogenous Tau in inducible mouse models of tauopathy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Disruption of the toxic conformation of the expanded polyglutamine stretch leads to suppression of aggregate formation and cytotoxicity

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

Amyloid fibril formation in the context of full-length protein: effects of proline mutations on the amyloid fibril formation of beta2-microglobulin

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5138863

The Integral Membrane Nucleoporin pom121 Functionally Links Nuclear Pore Complex Assembly and Nuclear Envelope Formation

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.4272

21 January 2018

Identifiers

DOI

10.1038/NN.4272

1 reference

20 August 2017

1 reference

20 August 2017

1 reference