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Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.

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JournalNeurobiology of disease
DateAccepted/In press - 23 Oct 2020
DateE-pub ahead of print (current) - 2 Nov 2020
Early online date2/11/20
Original languageEnglish

Abstract

Frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS) are two neurodegenerative diseases with clinical, genetic and pathological overlap. As such, they are commonly regarded as a single spectrum disorder, with pure FTD and pure ALS representing distinct ends of a continuum. Dysfunctional endo-lysosomal and autophagic trafficking, leading to impaired proteostasis is common across the FTD-ALS spectrum. These pathways are, in part, mediated by CHMP2B, a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Here we review how ALS and FTD disease causing mutations in CHMP2B have greatly contributed to our understanding of how endosomal-lysosomal and autophagic dysfunction contribute to neurodegeneration, and how in vitro and in vivo models have helped elucidate novel candidates for potential therapeutic intervention with implications across the FTD-ALS spectrum.

    Research areas

  • Neurodegeneration, CHMP2B, Therapeutics, Immunity, Proteostasis, FTD, ALS, ESCRT, Motor Neurone Disease

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