The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

doi:10.1007/s00401-015-1401-8

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

Community

Back to search

Article

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

Acta neuropathologica - 1 May 2015

Xi Zhengrui, Zhang Ming, Bruni Amalia C, Maletta Raffaele G, Colao Rosanna, Fratta Pietro, Polke James M, Sweeney Mary G, Mudanohwo Ese, Nacmias Benedetta, Sorbi Sandro, Tartaglia Maria Carmela, Rainero Innocenzo, Rubino Elisa, Pinessi Lorenzo, Galimberti Daniela, Surace Ezequiel I, McGoldrick Philip, McKeever Paul, Moreno Danielle, Sato Christine, Liang Yan, Keith Julia, Zinman Lorne, Robertson Janice, Rogaeva Ekaterina

Abstract excerpt

The most common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a G4C2-repeat expansion in C9orf72. However, the lower limit for pathological repeats has not been established and expansions with different sizes could have different pathological consequences. One of the implicated disease mechanisms is haploinsufficiency. Previously, we identified...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to C9orf72 Protein

Share to CpG Islands

Share to DNA Methylation

Share to DNA Repeat Expansion

Share to Frontotemporal Lobar Degeneration

Share to Proteins

Share to Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 25716178
DOI: 10.1007/s00401-015-1401-8

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

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.PMID 25716178Read ↗

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.Semantic proximity Read ↗

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Semantic proximity Read ↗

Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansionSemantic proximity Read ↗

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Semantic proximity Read ↗

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 ExpansionSemantic proximity Read ↗

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriersSemantic proximity Read ↗

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Semantic proximity Read ↗

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions.Semantic proximity Read ↗

Accurate DNA Methylation Predictor for <i>C9orf72</i> Repeat Expansion Alleles in the Pathogenic RangeSemantic proximity Read ↗

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.Semantic proximity Read ↗

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.Semantic proximity Read ↗

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