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Article

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

Acta neuropathologica communications - 5 May 2016

Onesto Elisa, Colombrita Claudia, Gumina Valentina, Borghi Maria Orietta, Dusi Sabrina, Doretti Alberto, Fagiolari Gigliola, Invernizzi Federica, Moggio Maurizio, Tiranti Valeria, Silani Vincenzo, Ratti Antonia

Abstract excerpt

Dysregulation of RNA metabolism represents an important pathogenetic mechanism in both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the involvement of the DNA/RNA-binding proteins TDP-43 and FUS and, more recently, of C9ORF72. A potential link between dysregulation of RNA metabolism and mitochondrial dysfunction is recently emerged in TDP-43 disease models. To further investigate...

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Share to Adenosine Triphosphate
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to C9orf72 Protein

Share to Frontotemporal Lobar Degeneration

Share to Membrane Potential, Mitochondrial

Share to Mitochondrial Diseases

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Source

Open in PubMed Open full text

Identifiers

PMID: 27151080
DOI: 10.1186/s40478-016-0316-5
PMCID: PMC4858818

Genes

TARDBP
FUS

Variants

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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