Article

Small molecule inhibition of PIKFYVE kinase rescues gain- and loss-of-function <i>C9ORF72</i> ALS/FTD disease processes <i>in vivo</i>

2019-06-28

Abstract excerpt

The most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a hexanucleotide repeat expansion (HRE) in C9ORF72 that contributes to neurodegeneration by both loss-of-function (decreased C9ORF72 protein levels) and gain-of-function (e.g. dipeptide repeat protein production) mechanisms. Although therapeutics targeting the gain-of-function mechanisms are in clinical develop...

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Literature Corpus work: b16962e5-3ae9-5069-933d-00c780fe2908
DOI: 10.1101/685800

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