Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model

Lipodystrophies are rare disorders, with Celia’s encephalopathy, identified by our research group in 2013, being exceptionally rare with only 33 cases to date. Over the years, our research group has unravelled key pathogenic mechanisms of this disease. However, its rarity, severity, and predominant...

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Detalles Bibliográficos
Autor: Cobelo Gómez, Silvia
Tipo de recurso: tesis doctoral
Fecha de publicación:2025
País:España
Institución:Universidad de Santiago de Compostela (USC)
Repositorio:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
Idioma:inglés
OAI Identifier:oai:minerva.usc.gal:10347/40233
Acceso en línea:https://hdl.handle.net/10347/40233
Access Level:acceso abierto
Palabra clave:BSCL2
Seipin
Neurodegeneration
PELD
Celia’s encephalopathy
320502 Endocrinología
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spelling Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine ModelCobelo Gómez, SilviaBSCL2SeipinNeurodegenerationPELDCelia’s encephalopathy320502 EndocrinologíaLipodystrophies are rare disorders, with Celia’s encephalopathy, identified by our research group in 2013, being exceptionally rare with only 33 cases to date. Over the years, our research group has unravelled key pathogenic mechanisms of this disease. However, its rarity, severity, and predominant brain involvement pose significant challenges for human studies. Therefore, in this study, we developed a knock-in mouse model expressing the aberrant human BSCL2 transcript, alongside a Bscl2 knock out model, to compare the effects of BSCL2 deficiency and overexpression. These models replicate aspects of Celia’s encephalopathy and congenital generalized lipodystrophy, offering valuable preclinical tools for studying these conditions and exploring potential therapies.Araujo-Vilar, DavidSánchez Iglesias, SofíaUniversidade de Santiago de Compostela. Escola de Doutoramento Internacional (EDIUS)20252025-01-0120252025-01-01doctoral thesishttp://purl.org/coar/resource_type/c_db06info:eu-repo/semantics/doctoralThesisapplication/pdfhttps://hdl.handle.net/10347/40233reponame:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostelainstname:Universidad de Santiago de Compostela (USC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:minerva.usc.gal:10347/402332026-06-15T12:47:27Z
dc.title.none.fl_str_mv Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
title Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
spellingShingle Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
Cobelo Gómez, Silvia
BSCL2
Seipin
Neurodegeneration
PELD
Celia’s encephalopathy
320502 Endocrinología
title_short Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
title_full Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
title_fullStr Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
title_full_unstemmed Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
title_sort Unravelling the Pathogenesis of Celia’s Encephalopathy (PELD): The Role of Seipin in Neurodegeneration, Lipodystrophy, and other Tissue Damage in a Humanized Murine Model
dc.creator.none.fl_str_mv Cobelo Gómez, Silvia
author Cobelo Gómez, Silvia
author_facet Cobelo Gómez, Silvia
author_role author
dc.contributor.none.fl_str_mv Araujo-Vilar, David
Sánchez Iglesias, Sofía
Universidade de Santiago de Compostela. Escola de Doutoramento Internacional (EDIUS)
dc.subject.none.fl_str_mv BSCL2
Seipin
Neurodegeneration
PELD
Celia’s encephalopathy
320502 Endocrinología
topic BSCL2
Seipin
Neurodegeneration
PELD
Celia’s encephalopathy
320502 Endocrinología
description Lipodystrophies are rare disorders, with Celia’s encephalopathy, identified by our research group in 2013, being exceptionally rare with only 33 cases to date. Over the years, our research group has unravelled key pathogenic mechanisms of this disease. However, its rarity, severity, and predominant brain involvement pose significant challenges for human studies. Therefore, in this study, we developed a knock-in mouse model expressing the aberrant human BSCL2 transcript, alongside a Bscl2 knock out model, to compare the effects of BSCL2 deficiency and overexpression. These models replicate aspects of Celia’s encephalopathy and congenital generalized lipodystrophy, offering valuable preclinical tools for studying these conditions and exploring potential therapies.
publishDate 2025
dc.date.none.fl_str_mv 2025
2025-01-01
2025
2025-01-01
dc.type.none.fl_str_mv doctoral thesis
http://purl.org/coar/resource_type/c_db06
dc.type.openaire.fl_str_mv info:eu-repo/semantics/doctoralThesis
format doctoralThesis
dc.identifier.none.fl_str_mv https://hdl.handle.net/10347/40233
url https://hdl.handle.net/10347/40233
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname:Universidad de Santiago de Compostela (USC)
instname_str Universidad de Santiago de Compostela (USC)
reponame_str Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
collection Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
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