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

Àlex Bayés

    Research output: Contribution to journalReview articleResearchpeer-review

    2 Citations (Scopus)

    Abstract

    © 2018, The Author(s). 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.
    Original languageEnglish
    Pages (from-to)1093-1101
    JournalJournal of Inherited Metabolic Disease
    Volume41
    Issue number6
    DOIs
    Publication statusPublished - 2 Nov 2018

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