Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

Knecht, Erwin et al.

Detalhes bibliográficos
Autores: Knecht, Erwin, Criado-García, Olga, Gayarre, Javier, Durán-Trío, Lara, Vernia, Santiago, Heredia, Miguel, Romá-Mateo, Carlos, Mourón, Silvana, Juana-López, Lucía, Sanz, Pascual, Bovolenta, Paola, Rodríguez de Córdoba, Santiago
Tipo de documento: artigo
Estado:Versión aceptada para publicación
Data de publicação:2012
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/113840
Acesso em linha:http://hdl.handle.net/10261/113840
Access Level:Acceso aberto
Palavra-chave:Metabolism
Glycogen
Autophagy
Lafora disease
Laforin
Neurodegeneration
Malin
id ES_1eaa9f42cb5afcbb04484ad4b2cfabb0
oai_identifier_str oai:digital.csic.es:10261/113840
network_acronym_str ES
network_name_str España
repository_id_str
spelling Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora diseaseKnecht, ErwinCriado-García, OlgaGayarre, JavierDurán-Trío, LaraVernia, SantiagoHeredia, MiguelRomá-Mateo, CarlosMourón, SilvanaJuana-López, LucíaSanz, PascualBovolenta, PaolaRodríguez de Córdoba, SantiagoMetabolismGlycogenAutophagyLafora diseaseLaforinNeurodegenerationMalinKnecht, Erwin et al.Lafora disease (LD), a fatal neurodegenerative disorder characterized by intracellular inclusions called Lafora bodies (LBs), is caused by recessive loss-of-function mutations in the genes encoding either laforin or malin. Previous studies suggested a role of these proteins in regulating glycogen biosynthesis, in glycogen dephosphorylation and in the modulation of intracellular proteolytic systems. However, the contribution of each of these processes to LD pathogenesis is unclear. Here we review our recent finding that dysfunction of autophagy is a common feature of both laforin- and malin-deficient mice, preceding other pathological manifestations. We propose that autophagy plays a primary role in LD pathogenesis and is a potential target for its treatment. © 2012 Landes Bioscience.Spanish Ministry of Science and Innovation (SAF2008-00226 to SRdeC, BFU2010-16031 to PB; BFU2008-00186, SAF2008-01907, SAF2010-18586); the Red de Biobancos del FIS (RD09/0076/00011); the Fondo de Investigación Sanitaria (PI10/02628, PI070023); the Fundación Marato TV3 (Ref.100130); the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Fundación Conchita RábagoPeer ReviewedLandes BioscienceConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]20122015info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Postprintinfo:eu-repo/semantics/acceptedVersionhttp://hdl.handle.net/10261/113840reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttp://dx.doi.org/10.4161/auto.19522Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/1138402026-05-22T06:33:51Z
dc.title.none.fl_str_mv Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
title Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
spellingShingle Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
Knecht, Erwin
Metabolism
Glycogen
Autophagy
Lafora disease
Laforin
Neurodegeneration
Malin
title_short Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
title_full Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
title_fullStr Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
title_full_unstemmed Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
title_sort Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
dc.creator.none.fl_str_mv Knecht, Erwin
Criado-García, Olga
Gayarre, Javier
Durán-Trío, Lara
Vernia, Santiago
Heredia, Miguel
Romá-Mateo, Carlos
Mourón, Silvana
Juana-López, Lucía
Sanz, Pascual
Bovolenta, Paola
Rodríguez de Córdoba, Santiago
author Knecht, Erwin
author_facet Knecht, Erwin
Criado-García, Olga
Gayarre, Javier
Durán-Trío, Lara
Vernia, Santiago
Heredia, Miguel
Romá-Mateo, Carlos
Mourón, Silvana
Juana-López, Lucía
Sanz, Pascual
Bovolenta, Paola
Rodríguez de Córdoba, Santiago
author_role author
author2 Criado-García, Olga
Gayarre, Javier
Durán-Trío, Lara
Vernia, Santiago
Heredia, Miguel
Romá-Mateo, Carlos
Mourón, Silvana
Juana-López, Lucía
Sanz, Pascual
Bovolenta, Paola
Rodríguez de Córdoba, Santiago
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Metabolism
Glycogen
Autophagy
Lafora disease
Laforin
Neurodegeneration
Malin
topic Metabolism
Glycogen
Autophagy
Lafora disease
Laforin
Neurodegeneration
Malin
description Knecht, Erwin et al.
publishDate 2012
dc.date.none.fl_str_mv 2012
2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Postprint
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/113840
url http://hdl.handle.net/10261/113840
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv http://dx.doi.org/10.4161/auto.19522
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Landes Bioscience
publisher.none.fl_str_mv Landes Bioscience
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869404354486730752
score 15.811543

Registros relacionados