Lecture

RNA Metabolism: ALS Genetics

Description

This lecture covers RNA metabolism in the context of ALS genetics, focusing on key proteins like TDP-43 and FUS/TLS, their mutations, and implications in ALS and frontotemporal lobar degeneration. It discusses the role of RNA recognition motifs, cytosolic inclusions, and the impact of RNA binding on protein mislocalization and aggregation. The lecture also explores the light-inducible oligomerization of TDP-43, stress granule dynamics, and the hexanucleotide repeat expansions in C9orf72, leading to nucleocytoplasmic transport blockade and cellular aging. The mechanisms of toxic RNA and dipeptide production, as well as potential therapeutic approaches targeting these toxic activities, are also addressed.

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