The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement

Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of muscle strength. These disorders are classified according to their neuroanatomical location, as motor neuron diseases, peripheral nerve diseases,...

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Autores: Bachiller, Sara, Alonso Bellido, Isabel María, Real Navarrete, Luis Miguel, Pérez Villegas, Eva María, Venero Recio, José Luis, Deierborg, Tomas, Armengol, José Ángel, Ruiz Laza, Rocío
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Recursos:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:idus.us.es:11441/101441
Acesso em linha:https://hdl.handle.net/11441/101441
https://doi.org/10.3390/ijms21176429
Access Level:acceso abierto
Palavra-chave:Neuromuscular disorder
Neuromuscular junction
Proteasome
Synapse
Ubiquitin
UPS
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spelling The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond MovementBachiller, SaraAlonso Bellido, Isabel MaríaReal Navarrete, Luis MiguelPérez Villegas, Eva MaríaVenero Recio, José LuisDeierborg, TomasArmengol, José ÁngelRuiz Laza, RocíoNeuromuscular disorderNeuromuscular junctionProteasomeSynapseUbiquitinUPSNeuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of muscle strength. These disorders are classified according to their neuroanatomical location, as motor neuron diseases, peripheral nerve diseases, neuromuscular junction diseases, and muscle diseases. Over the years, numerous studies have pointed to protein homeostasis as a crucial factor in the development of these fatal diseases. The ubiquitin-proteasome system (UPS) plays a fundamental role in maintaining protein homeostasis, being involved in protein degradation, among other cellular functions. Through a cascade of enzymatic reactions, proteins are ubiquitinated, tagged, and translocated to the proteasome to be degraded. Within the ubiquitin system, we can find three main groups of enzymes: E1 (ubiquitin-activating enzymes), E2 (ubiquitin-conjugating enzymes), and E3 (ubiquitin-protein ligases). Only the ubiquitinated proteins with specific chain linkages (such as K48) will be degraded by the UPS. In this review, we describe the relevance of this system in NMDs, summarizing the UPS proteins that have been involved in pathological conditions and neuromuscular disorders, such as Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth disease (CMT), or Duchenne Muscular Dystrophy (DMD), among others. A better knowledge of the processes involved in the maintenance of proteostasis may pave the way for future progress in neuromuscular disorder studies and treatments.Ministerio de Economía y Competitividad RTI2018-098645-B-100Multidisciplinary Digital Publishing Institute (MDPI)Bioquímica y Biología Molecular2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11441/101441https://doi.org/10.3390/ijms21176429reponame:idUS. Depósito de Investigación de la Universidad de Sevillainstname:Universidad de Sevilla (US)InglésInternational Journal of Molecular Sciences, 21 (17), 6429-.RTI2018-098645-B-100https://doi.org/10.3390/ijms21176429info:eu-repo/semantics/openAccessoai:idus.us.es:11441/1014412026-06-17T12:51:07Z
dc.title.none.fl_str_mv The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
title The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
spellingShingle The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
Bachiller, Sara
Neuromuscular disorder
Neuromuscular junction
Proteasome
Synapse
Ubiquitin
UPS
title_short The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
title_full The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
title_fullStr The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
title_full_unstemmed The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
title_sort The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
dc.creator.none.fl_str_mv Bachiller, Sara
Alonso Bellido, Isabel María
Real Navarrete, Luis Miguel
Pérez Villegas, Eva María
Venero Recio, José Luis
Deierborg, Tomas
Armengol, José Ángel
Ruiz Laza, Rocío
author Bachiller, Sara
author_facet Bachiller, Sara
Alonso Bellido, Isabel María
Real Navarrete, Luis Miguel
Pérez Villegas, Eva María
Venero Recio, José Luis
Deierborg, Tomas
Armengol, José Ángel
Ruiz Laza, Rocío
author_role author
author2 Alonso Bellido, Isabel María
Real Navarrete, Luis Miguel
Pérez Villegas, Eva María
Venero Recio, José Luis
Deierborg, Tomas
Armengol, José Ángel
Ruiz Laza, Rocío
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Bioquímica y Biología Molecular
dc.subject.none.fl_str_mv Neuromuscular disorder
Neuromuscular junction
Proteasome
Synapse
Ubiquitin
UPS
topic Neuromuscular disorder
Neuromuscular junction
Proteasome
Synapse
Ubiquitin
UPS
description Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of muscle strength. These disorders are classified according to their neuroanatomical location, as motor neuron diseases, peripheral nerve diseases, neuromuscular junction diseases, and muscle diseases. Over the years, numerous studies have pointed to protein homeostasis as a crucial factor in the development of these fatal diseases. The ubiquitin-proteasome system (UPS) plays a fundamental role in maintaining protein homeostasis, being involved in protein degradation, among other cellular functions. Through a cascade of enzymatic reactions, proteins are ubiquitinated, tagged, and translocated to the proteasome to be degraded. Within the ubiquitin system, we can find three main groups of enzymes: E1 (ubiquitin-activating enzymes), E2 (ubiquitin-conjugating enzymes), and E3 (ubiquitin-protein ligases). Only the ubiquitinated proteins with specific chain linkages (such as K48) will be degraded by the UPS. In this review, we describe the relevance of this system in NMDs, summarizing the UPS proteins that have been involved in pathological conditions and neuromuscular disorders, such as Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth disease (CMT), or Duchenne Muscular Dystrophy (DMD), among others. A better knowledge of the processes involved in the maintenance of proteostasis may pave the way for future progress in neuromuscular disorder studies and treatments.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11441/101441
https://doi.org/10.3390/ijms21176429
url https://hdl.handle.net/11441/101441
https://doi.org/10.3390/ijms21176429
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv International Journal of Molecular Sciences, 21 (17), 6429-.
RTI2018-098645-B-100
https://doi.org/10.3390/ijms21176429
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute (MDPI)
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute (MDPI)
dc.source.none.fl_str_mv reponame:idUS. Depósito de Investigación de la Universidad de Sevilla
instname:Universidad de Sevilla (US)
instname_str Universidad de Sevilla (US)
reponame_str idUS. Depósito de Investigación de la Universidad de Sevilla
collection idUS. Depósito de Investigación de la Universidad de Sevilla
repository.name.fl_str_mv
repository.mail.fl_str_mv
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