Article

Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF72 patients

2021-07-16

Abstract excerpt

<title>Abstract</title> <p>Hexanucleotide repeat expansion in <italic>C9ORF72 </italic>gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Loss of C9ORF72 protein function and a toxic gain-of-function directly by the RNA or RAN translation have been proposed as triggering pathological mechanisms, along with the accumulation of TDP-43 protein. In addition...

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Literature Corpus work: f07363ec-11d1-513a-a34f-0a2cea0a250f
DOI: 10.21203/rs.3.rs-698721/v1

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