C9orf72 Hexanucleotide Expansions are Associated with Altered ER Calcium Homeostasis and Stress Granule Formation in iPSC‐Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

This study is an extensive characterization of iPSC‐derived motor neurons as cellular models of ALS carrying C9orf72 hexanucleotide repeats, which describes a novel pathogenic link between C9orf72 mutations, dysregulation of calcium signalling and altered proteostasis and provides a potential pharmacological target for the treatment of ALS and the related neurodegenerative disease frontotemporal dementia (FTD). This article is protected by copyright. All rights reserved.

Source: Stem Cells - April 19, 2016 Category: Stem Cells Authors: Ruxandra Dafinca, Jakub Scaber, Nida'a Ababneh, Tatjana Lalic, Gregory Weir, Helen Christian, Jane Vowles, Andrew G. L. Douglas, Alexandra Fletcher‐Jones, Cathy Browne, Mahito Nakanishi, Martin R. Turner, Richard Wade‐Martins, Sally A Cowley, Kevin Ta Tags: Embryonic Stem Cells/Induced Pluripotent Stem Cells Source Type: research