Preclinical research in glycogen storage diseases : a comprehensive review of current animal models
Almodóvar Payá, Aitana (Hospital Universitari Vall d'Hebron)
Villarreal-Salazar, Mónica (Vall d'Hebron Institut de Recerca (VHIR))
de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau)
Nogales, Gisela (Institut Germans Trias i Pujol)
Real-Martinez, Alberto (Vall d'Hebron Institut de Recerca (VHIR))
Andreu Périz, Antoni Lluís (European Infrastructure for Translational Medicine)
Martín, Miguel A. (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Arenas, Joaquín (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Lucia, Alejandro (Universidad Europea. Facultad de Ciencias del Deporte)
Vissing, John (University of Copenhagen. Department of Neurology)
Krag, Thomas (University of Copenhagen. Department of Neurology)
Pinós Figueras, Tomàs (Vall d'Hebron Institut de Recerca (VHIR))
Universitat Autònoma de Barcelona

Date:	2020
Abstract:	GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). Several different GSD animal models have been found to naturally present spontaneous mutations and others have been developed and characterized in order to further understand the physiopathology of these diseases and as a useful tool to evaluate potential therapeutic strategies. In the present work we have reviewed a total of 42 different animal models of GSD, including 26 genetically modified mouse models, 15 naturally occurring models (encompassing quails, cats, dogs, sheep, cattle and horses), and one genetically modified zebrafish model. To our knowledge, this is the most complete list of GSD animal models ever reviewed. Importantly, when all these animal models are analyzed together, we can observe some common traits, as well as model specific differences, that would be overlooked if each model was only studied in the context of a given GSD.
Grants:	Instituto de Salud Carlos III PI19-01313
Note:	Altres ajuts: The present manuscript was funded by grants received from the Fondo de Investigaciones Sanitarias (FIS, grant; Instituto de Salud Carlos III) and cofunded by 'Fondos FEDER'. M.V.-S. is funded by a personal grant for doctoral studies from CONACYT (Consejo Nacional de Ciencia y Tecnología México).
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article de revisió ; Article ; Versió publicada
Subject:	Glycogen storage diseases ; Animal models ; Therapy
Published in:	International journal of molecular sciences, Vol. 21 Núm. 24 (2020) , p. 9621, ISSN 1422-0067

DOI: 10.3390/ijms21249621
PMID: 33348688

48 p, 682.2 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Published articles