Autophagy receptor defects and ALS-FTLD

Majchera, Veronika; Goode, Alice; James, Victoria; Layfield, Robert

Abstract

Various pathophysiological mechanisms have been implicated in the ALS-FTLD clinicopathological spectrum of neurodegenerative disorders. Here we focus on the role of autophagy, an intracellular catabolic pathway, in these conditions. Growing evidence suggests that the autophagic process can be disturbed in ALS-FTLD, including by genetic mutations affecting autophagy receptor proteins (ubiquilin-2, optineurin, SQSTM1/p62) and regulators (VCP). Such mutations may impair clearance of autophagy substrates with pathological consequences. Recent studies have also uncovered a direct connection between autophagy and RNA processing, supporting an integrated model connecting several ALS-FTLD associated gene products. This article is part of a Special Issue entitled 'Neuronal Protein'.

• Journal Article Type: Article
• Acceptance Date: Jan 27, 2015
• Online Publication Date: Feb 12, 2015
• Publication Date: May 31, 2015
• Deposit Date: Jun 27, 2018
• Journal: Molecular and Cellular Neuroscience
• Print ISSN: 1044-7431
• Publisher: Elsevier
• Peer Reviewed: Peer Reviewed
• Volume: 66
• Issue: A
• Pages: 43-52
• DOI: https://doi.org/10.1016/j.mcn.2015.01.002
• Public URL: https://nottingham-repository.worktribe.com/output/1101827
• Publisher URL: https://www.sciencedirect.com/science/article/pii/S1044743115000184?via%3Dihub