Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.

doi:10.1016/j.stemcr.2020.03.023

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Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.

Stem cell reports - 12 May 2020

Dafinca Ruxandra, Barbagallo Paola, Farrimond Lucy, Candalija Ana, Scaber Jakub, Ababneh Nida'a A, Sathyaprakash Chaitra, Vowles Jane, Cowley Sally A, Talbot Kevin

Abstract excerpt

TDP-43 dysfunction is common to 97% of amyotrophic lateral sclerosis (ALS) cases, including those with mutations in C9orf72. To investigate how C9ORF72 mutations drive cellular pathology in ALS and to identify convergent mechanisms between C9ORF72 and TARDBP mutations, we analyzed motor neurons (MNs) derived from induced pluripotent stem cells (iPSCs) from patients with ALS. C9ORF72 iPSC-MNs have higher Ca2+...

Topics

Amyotrophic Lateral Sclerosis
C9orf72 Protein
Calbindins
Calcium
Calcium Channels
Calcium-Binding Proteins
Cation Transport Proteins
Cell Line
DNA-Binding Proteins
Frontotemporal Dementia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glutamic Acid

Humans

Induced Pluripotent Stem Cells

Mitochondria

Mitochondrial Membrane Transport Proteins

Motor Neurons

Mutation

Receptors, AMPA

Source

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Identifiers

PMID: 32330447
DOI: 10.1016/j.stemcr.2020.03.023
PMCID: PMC7220989

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

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