PDE10A mutations help to unwrap the neurobiology of hyperkinetic disorders

Whiteley, E. L., Tejeda, G. S. , Baillie, G. S. and Brandon, N. J. (2019) PDE10A mutations help to unwrap the neurobiology of hyperkinetic disorders. Cellular Signalling, 60, pp. 31-38. (doi: 10.1016/j.cellsig.2019.04.001) (PMID:30951862)

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Abstract

The dual-specific cAMP/cGMP phosphodiesterase PDE10A is exclusively localised to regions of the brain and specific cell types that control crucial brain circuits and behaviours. The downside to this expression pattern is that PDE10A is also positioned to be a key player in pathology when its function is perturbed. The last decade of research has seen a clear role emerge for PDE10A inhibition in modifying behaviours in animal models of psychosis and Huntington's disease. Unfortunately, this has not translated to the human diseases as expected. More recently, a series of families with hyperkinetic movement disorders have been identified with mutations altering the PDE10A protein sequence. As these mutations have been analysed and characterised in other model systems, we are beginning to learn more about PDE10A function and perhaps catch a glimpse into how PDE10A activity could be modified for therapeutic benefit.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Baillie, Professor George and WHITELEY, Ellanor and Tejeda, Dr Gonzalo
Authors: Whiteley, E. L., Tejeda, G. S., Baillie, G. S., and Brandon, N. J.
College/School:College of Medical Veterinary and Life Sciences
College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health
Journal Name:Cellular Signalling
Publisher:Elsevier
ISSN:0898-6568
ISSN (Online):1873-3913
Published Online:02 April 2019
Copyright Holders:Copyright © 2019 Elsevier Inc.
First Published:First published in Cellular Signalling 60:31-38
Publisher Policy:Reproduced in accordance with the copyright policy of the publisher

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