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Article

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.

Human molecular genetics - 1 Nov 2014

Xi Zhengrui, Rainero Innocenzo, Rubino Elisa, Pinessi Lorenzo, Bruni Amalia C, Maletta Raffaele G, Nacmias Benedetta, Sorbi Sandro, Galimberti Daniela, Surace Ezequiel I, Zheng Yonglan, Moreno Danielle, Sato Christine, Liang Yan, Zhou Ye, Robertson Janice, Zinman Lorne, Tartaglia Maria Carmela, St George-Hyslop Peter, Rogaeva Ekaterina

Abstract excerpt

The G₄C₂-repeat expansion in C9orf72 is a common cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). C9orf72 transcription is reduced in expansion carriers implicating haploinsufficiency as one of the disease mechanisms. Indeed, our recent ALS study revealed that the expansion was associated with hypermethylation of the CpG-island (5'of the repeat) in DNA samples obtained...

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Age of Onset
Amyotrophic Lateral Sclerosis
C9orf72 Protein
CpG Islands

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Datasets as Topic

DNA Methylation

DNA Repeat Expansion

Frontotemporal Lobar Degeneration

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PMID: 24908669
DOI: 10.1093/hmg/ddu279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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