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Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery

SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an heterogeneous family of proteins that, together with their key regulators, are implicated in synaptic vesicle exocytosis and synaptic transmission. SNAREs represent the core component of this protein complex. Altho...

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Autores principales: Cali, Elisa, Rocca, Clarissa, Salpietro, Vincenzo, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8792400/
https://www.ncbi.nlm.nih.gov/pubmed/35095745
http://dx.doi.org/10.3389/fneur.2021.806506
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author Cali, Elisa
Rocca, Clarissa
Salpietro, Vincenzo
Houlden, Henry
author_facet Cali, Elisa
Rocca, Clarissa
Salpietro, Vincenzo
Houlden, Henry
author_sort Cali, Elisa
collection PubMed
description SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an heterogeneous family of proteins that, together with their key regulators, are implicated in synaptic vesicle exocytosis and synaptic transmission. SNAREs represent the core component of this protein complex. Although the specific mechanisms of the SNARE machinery is still not completely uncovered, studies in recent years have provided a clearer understanding of the interactions regulating the essential fusion machinery for neurotransmitter release. Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as “SNAREopathies.” These include neurodevelopmental disorder, autism spectrum disorder (ASD), movement disorders, seizures and epileptiform abnormalities. The SNARE phenotypic spectrum associated with seizures ranges from simple febrile seizures and infantile spasms, to severe early-onset epileptic encephalopathies. Our study aims to review and delineate the epileptic phenotypes associated with dysregulation of synaptic vesicle exocytosis and transmission, focusing on the main proteins of the SNARE core complex (STX1B, VAMP2, SNAP25), tethering complex (STXBP1), and related downstream regulators.
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spelling pubmed-87924002022-01-28 Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery Cali, Elisa Rocca, Clarissa Salpietro, Vincenzo Houlden, Henry Front Neurol Neurology SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an heterogeneous family of proteins that, together with their key regulators, are implicated in synaptic vesicle exocytosis and synaptic transmission. SNAREs represent the core component of this protein complex. Although the specific mechanisms of the SNARE machinery is still not completely uncovered, studies in recent years have provided a clearer understanding of the interactions regulating the essential fusion machinery for neurotransmitter release. Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as “SNAREopathies.” These include neurodevelopmental disorder, autism spectrum disorder (ASD), movement disorders, seizures and epileptiform abnormalities. The SNARE phenotypic spectrum associated with seizures ranges from simple febrile seizures and infantile spasms, to severe early-onset epileptic encephalopathies. Our study aims to review and delineate the epileptic phenotypes associated with dysregulation of synaptic vesicle exocytosis and transmission, focusing on the main proteins of the SNARE core complex (STX1B, VAMP2, SNAP25), tethering complex (STXBP1), and related downstream regulators. Frontiers Media S.A. 2022-01-13 /pmc/articles/PMC8792400/ /pubmed/35095745 http://dx.doi.org/10.3389/fneur.2021.806506 Text en Copyright © 2022 Cali, Rocca, Salpietro and Houlden. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Cali, Elisa
Rocca, Clarissa
Salpietro, Vincenzo
Houlden, Henry
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
title Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
title_full Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
title_fullStr Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
title_full_unstemmed Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
title_short Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
title_sort epileptic phenotypes associated with snares and related synaptic vesicle exocytosis machinery
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8792400/
https://www.ncbi.nlm.nih.gov/pubmed/35095745
http://dx.doi.org/10.3389/fneur.2021.806506
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