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Mol Cell Neurosci. 2015 May;66(Pt A):43-52. doi: 10.1016/j.mcn.2015.01.002. Epub 2015 Feb 12.

Autophagy receptor defects and ALS-FTLD.

Author information

1
School of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK.
2
School of Veterinary Medicine and Science, Sutton Bonington Campus, University of Nottingham, LE12 5RD, UK.
3
School of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK. Electronic address: robert.layfield@nottingham.ac.uk.

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'.

KEYWORDS:

ALS; Autophagy; FTLD; Optineurin; SQSTM1/p62; Stress granules; Ubiquilin; VCP

PMID:
25683489
DOI:
10.1016/j.mcn.2015.01.002
[Indexed for MEDLINE]

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