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Article

Disruption of ER‐mitochondria tethering and signalling in <i>C9orf72</i>‐associated amyotrophic lateral sclerosis and frontotemporal dementia

13 Jan 2022

Abstract excerpt

Abstract Hexanucleotide repeat expansions in C9orf72 are the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mechanisms by which the expansions cause disease are not properly understood but a favoured route involves its translation into dipeptide repeat (DPR) polypeptides, some of which are neurotoxic. However, the precise targets for mutant C9orf72 and DPR...

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PMID: 35026048
DOI: 10.1111/acel.13549

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