Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.


Journal

Molecular neurobiology
ISSN: 1559-1182
Titre abrégé: Mol Neurobiol
Pays: United States
ID NLM: 8900963

Informations de publication

Date de publication:
Feb 2022
Historique:
received: 31 08 2021
accepted: 04 12 2021
pubmed: 29 12 2021
medline: 8 4 2022
entrez: 28 12 2021
Statut: ppublish

Résumé

Lafora disease (LD) is a fatal childhood-onset dementia characterized by the extensive accumulation of glycogen aggregates-the so-called Lafora Bodies (LBs)-in several organs. The accumulation of LBs in the brain underlies the neurological phenotype of the disease. LBs are composed of abnormal glycogen and various associated proteins, including p62, an autophagy adaptor that participates in the aggregation and clearance of misfolded proteins. To study the role of p62 in the formation of LBs and its participation in the pathology of LD, we generated a mouse model of the disease (malin

Identifiants

pubmed: 34962634
doi: 10.1007/s12035-021-02682-6
pii: 10.1007/s12035-021-02682-6
pmc: PMC8857170
doi:

Substances chimiques

Sequestosome-1 Protein 0
Sqstm1 protein, mouse 0
Glycogen 9005-79-2

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1214-1229

Subventions

Organisme : Horizon 2020
ID : Marie Skłodowska-Curie grant agreement No. 75451
Organisme : Instituto de Salud Carlos III
ID : CIBERDEM
Organisme : NINDS NIH HHS
ID : P01 NS097197
Pays : United States
Organisme : Departament d'Innovació, Universitats i Empresa, Generalitat de Catalunya
ID : SGR2017-648
Organisme : Ministerio de Ciencia, Innovación y Universidades
ID : BFU2017-84345-P
Organisme : Agencia Estatal de Investigación
ID : RT2018-099773-B-100
Organisme : NINDS NIH HHS
ID : P01NS097197
Pays : United States
Organisme : Ministerio de Ciencia, Innovación y Universidades
ID : PID202-118699GB-I00

Informations de copyright

© 2021. The Author(s).

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Auteurs

Pasquale Pellegrini (P)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.

Arnau Hervera (A)

Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.
Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), 28031, Madrid, Spain.
Department of Cell Biology, Physiology and Immunology, Universitat de Barcelona, 08028, Barcelona, Spain.
Institute of Neurosciences, University of Barcelona, 08028, Barcelona, Spain.

Olga Varea (O)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.

M Kathryn Brewer (MK)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.

Iliana López-Soldado (I)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), 28029, Madrid, Spain.

Anna Guitart (A)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.

Mònica Aguilera (M)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.

Neus Prats (N)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.

José Antonio Del Río (JA)

Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain.
Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), 28031, Madrid, Spain.
Department of Cell Biology, Physiology and Immunology, Universitat de Barcelona, 08028, Barcelona, Spain.
Institute of Neurosciences, University of Barcelona, 08028, Barcelona, Spain.

Joan J Guinovart (JJ)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain. guinovart@irbbarcelona.org.
Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), 28029, Madrid, Spain. guinovart@irbbarcelona.org.
Department of Biochemistry and Molecular Biomedicine, University of Barcelona, 08028, Barcelona, Spain. guinovart@irbbarcelona.org.

Jordi Duran (J)

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain. jordi.duran@iqs.url.edu.
Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain. jordi.duran@iqs.url.edu.
Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), 28029, Madrid, Spain. jordi.duran@iqs.url.edu.
Institut Químic de Sarrià, University Ramon Llull, 08017, Barcelona, Spain. jordi.duran@iqs.url.edu.

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