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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

Abstract:

An expanded hexanucleotide repeat in a noncoding region of the C9orf72 gene is a major cause of amyotrophic lateral sclerosis (ALS), accounting for up to 40andpercnt; of familial cases and 7andpercnt; of sporadic ALS in European populations. We have generated induced pluripotent stem cells (iPSCs) from fibroblasts of patients carrying C9orf72 hexanucleotide expansions, differentiated these to functional motor and cortical neurons and performed an extensive phenotypic char...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1002/stem.2388

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Institution:
University of Oxford
Department:
Oxford, MSD, Nuffield Department of Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Nuffield Department of Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Nuffield Department of Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Nuffield Department of Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Nuffield Department of Clinical Neurosciences
Role:
Author
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Publisher:
Wiley Publisher's website
Journal:
Stem Cells Journal website
Publication date:
2016-01-01
DOI:
EISSN:
1549-4918
ISSN:
1549-4918
URN:
uuid:e2c018da-6bfe-4bd4-8fa8-e6f20ae15c8c
Source identifiers:
614256
Local pid:
pubs:614256

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