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

C9orf72; abnormal RNA expression is the key.

Experimental neurology - 1 Dec 2014

Heutink Peter, Jansen Iris E, Lynes Emily M

Abstract excerpt

An expanded GGGGCC hexanucleotide repeat in the first intron located between the 1st and 2nd non-coding exons of C9orf72 is the most frequent cause of frontotemporal dementia (FTD) and amyothropic lateral sclerosis (ALS). C9orf72 is a protein with largely unknown function and insight into the disease mechanism caused by the repeat expansion is still in an early stage but increases at an amazing pace. Three main...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Proteins
Share to RNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Amyotrophic Lateral Sclerosis

Share to Amyotrophic Lateral Sclerosis Research

Share to C9orf72 Protein

Share to Frontotemporal Dementia

Source

Identifiers

PMID: 24873727
DOI: 10.1016/j.expneurol.2014.05.020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

C9orf72; abnormal RNA expression is the key.PMID 24873727Read ↗

C9ORF72: What It Is, What It Does, and Why It MattersSemantic proximity Read ↗

The Genetics of C9orf72 Expansions.Semantic proximity Read ↗

C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?Semantic proximity Read ↗

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS.Semantic proximity Read ↗

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

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

C9ORF72 mutations in neurodegenerative diseases.Semantic proximity Read ↗

Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic StrategiesSemantic proximity Read ↗

RNA-mediated toxicity in C9orf72 ALS and FTDSemantic proximity Read ↗

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

Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALSSemantic proximity Read ↗

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.Semantic proximity Read ↗

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