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Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders

Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical str...

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Detalles Bibliográficos
Autor principal: Bayés, Àlex
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326985/
https://www.ncbi.nlm.nih.gov/pubmed/30132229
http://dx.doi.org/10.1007/s10545-018-0240-x
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author Bayés, Àlex
author_facet Bayés, Àlex
author_sort Bayés, Àlex
collection PubMed
description Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse in inherited metabolic disorders is in glaring contrast with that of the postsynaptic component, which so far does not seem to play a relevant role in these disorders. This is somewhat surprising, as postsynaptic proteins are known to be involved in many nervous system diseases, particularly in neurodevelopmental and psychiatric disorders. The goal of this article is to explore if defects in the sophisticated postsynaptic machinery could also have a role in neurometabolic disorders. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10545-018-0240-x) contains supplementary material, which is available to authorized users.
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spelling pubmed-63269852019-01-25 Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders Bayés, Àlex J Inherit Metab Dis Review Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse in inherited metabolic disorders is in glaring contrast with that of the postsynaptic component, which so far does not seem to play a relevant role in these disorders. This is somewhat surprising, as postsynaptic proteins are known to be involved in many nervous system diseases, particularly in neurodevelopmental and psychiatric disorders. The goal of this article is to explore if defects in the sophisticated postsynaptic machinery could also have a role in neurometabolic disorders. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10545-018-0240-x) contains supplementary material, which is available to authorized users. Springer Netherlands 2018-08-21 2018 /pmc/articles/PMC6326985/ /pubmed/30132229 http://dx.doi.org/10.1007/s10545-018-0240-x Text en © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Review
Bayés, Àlex
Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
title Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
title_full Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
title_fullStr Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
title_full_unstemmed Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
title_short Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
title_sort setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326985/
https://www.ncbi.nlm.nih.gov/pubmed/30132229
http://dx.doi.org/10.1007/s10545-018-0240-x
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