Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.

Nature - 3 Sept 2015

Freibaum Brian D, Lu Yubing, Lopez-Gonzalez Rodrigo, Kim Nam Chul, Almeida Sandra, Lee Kyung-Ha, Badders Nisha, Valentine Marc, Miller Bruce L, Wong Philip C, Petrucelli Leonard, Kim Hong Joo, Gao Fen-Biao, Taylor J Paul

Abstract excerpt

The GGGGCC (G4C2) repeat expansion in a noncoding region of C9orf72 is the most common cause of sporadic and familial forms of amyotrophic lateral sclerosis and frontotemporal dementia. The basis for pathogenesis is unknown. To elucidate the consequences of G4C2 repeat expansion in a tractable genetic system, we generated transgenic fly lines expressing 8, 28 or 58 G4C2-repeat-containing transcripts that do not...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Active Transport, Cell Nucleus
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repeat Expansion

Share to Frontotemporal Dementia

Share to Nuclear Pore

Share to RNA Transport

Share to Salivary Glands

Source

Open in PubMed Open full text

Identifiers

PMID: 26308899
DOI: 10.1038/nature14974
PMCID: PMC4631399

Genes

RAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.PMID 26308899Read ↗

Loss of C9orf72 perturbs the Ran-GTPase gradient and generates compositionally diverse cytoplasmic Importin β-1 granules in motor and cortical neurons <i>in vivo</i>Semantic proximity Read ↗

Nucleoporins are degraded via upregulation of ESCRT-III/Vps4 complex in Drosophila models of C9-ALS/FTDSemantic proximity Read ↗

C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasmSemantic proximity Read ↗

GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule functionSemantic proximity Read ↗

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansionsSemantic proximity Read ↗

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusionsSemantic proximity Read ↗

Distinct neurological disorders with C9orf72 mutations: genetics, pathogenesis, and therapy.Semantic proximity Read ↗

Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes.Semantic proximity Read ↗

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal DementiaSemantic proximity Read ↗

The C9orf72 repeat expansion disrupts nucleocytoplasmic transportSemantic proximity Read ↗

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTDSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.