Inherited and Sporadic Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degenerations arising from Pathological Condensates of Phase Separating Proteins.

Autor:	Fernandopulle M; Cambridge Institute for Medical Research, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK, CB2 0XY., Wang G; Cambridge Institute for Medical Research, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK, CB2 0XY., Nixon-Abell J; Cambridge Institute for Medical Research, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK, CB2 0XY., Qamar S; Cambridge Institute for Medical Research, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK, CB2 0XY., Balaji V; Tanz Centre for Research in Neurodegenerative Diseases, and Departments of Medicine, University of Toronto, Toronto, Ontario, Canada, M5S 3H2., Morihara R; Tanz Centre for Research in Neurodegenerative Diseases, and Departments of Medicine, University of Toronto, Toronto, Ontario, Canada, M5S 3H2., St George-Hyslop PH; Cambridge Institute for Medical Research, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK, CB2 0XY.; Tanz Centre for Research in Neurodegenerative Diseases, and Departments of Medicine, University of Toronto, Toronto, Ontario, Canada, M5S 3H2.
Jazyk:	angličtina
Zdroj:	Human molecular genetics [Hum Mol Genet] 2019 Nov 21; Vol. 28 (R2), pp. R187-R196.
DOI:	10.1093/hmg/ddz162
Abstrakt:	Recent work on the biophysics of proteins with low complexity, intrinsically disordered domains that have the capacity to form biological condensates has profoundly altered the concepts about the pathogenesis of inherited and sporadic neurodegenerative disorders associated with pathological accumulation of these proteins. In the present review, we use the FUS, TDP-43 and A11 proteins as examples to illustrate how missense mutations and aberrant post-translational modifications of these proteins cause amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration (FTLD). (© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
Databáze:	MEDLINE
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