Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD
Ruxandra Dafinca, Paola Barbagallo, Lucy Farrimond, Ana Candalija, Jakub Scaber, Nidaa A. Ababneh, Chaitra Sathyaprakash, Jane Vowles, Sally A. Cowley, Kevin Talbot
Abstract
uptake contributes to glutamate excitotoxicity and is a shared feature of MNs with C9ORF72 or TARDBP mutations.
Topics & Concepts
TARDBPC9orf72Amyotrophic lateral sclerosisBiologyExcitotoxicityInduced pluripotent stem cellSOD1Glutamate receptorCell biologyNeuroscienceUniporterMutationGeneticsTrinucleotide repeat expansionGeneMutantPathologyBiochemistryMedicineDiseaseEnzymeReceptorEmbryonic stem cellCytosolAlleleAmyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchIon channel regulation and function