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Mitochondrial DNA copy number and D-loop region methylation in carriers of amyotrophic lateral sclerosis gene mutations.

Epigenomics - 1 Nov 2018

Stoccoro Andrea, Mosca Lorena, Carnicelli Vittoria, Cavallari Ugo, Lunetta Christian, Marocchi Alessandro, Migliore Lucia, Coppedè Fabio

Abstract excerpt

AIM: To investigate mitochondrial DNA (mtDNA) copy number and D-loop region methylation in carriers of SOD1, TARDBP, FUS and C9orf72 mutations. METHODS: Investigations were performed in blood DNA from 114 individuals, including amyotrophic lateral sclerosis (ALS) patients, presymptomatic carriers and noncarrier family members. RESULTS: Increased mtDNA copy number (p = 0.0001) was observed in ALS patients, and...

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Share to Amyotrophic Lateral Sclerosis
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

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Share to RNA-Binding Protein FUS

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Source

Identifiers

PMID: 30088417
DOI: 10.2217/epi-2018-0072

Genes

SOD1
FUS
TARDBP

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.

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