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Review

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

by
Aitana Almodóvar-Payá
1,2,†,
Mónica Villarreal-Salazar
1,2,†,
Noemí de Luna
2,3,
Gisela Nogales-Gadea
2,4,
Alberto Real-Martínez
1,2,
Antoni L. Andreu
5,
Miguel Angel Martín
2,6,
Joaquin Arenas
2,6,
Alejandro Lucia
7,
John Vissing
8,
Thomas Krag
8 and
Tomàs Pinós
1,2,*
1
Mitochondrial and Neuromuscular Disorders Unit, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
2
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain
3
Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08041 Barcelona, Spain
4
Grup de Recerca en Malalties Neuromusculars i Neuropediàtriques, Department of Neurosciences, Institut d’Investigacio en Ciencies de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain
5
EATRIS, European Infrastructure for Translational Medicine, 1081 HZ Amsterdam, The Netherlands
6
Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital Research Institute (i+12), 28041 Madrid, Spain
7
Faculty of Sport Sciences, European University, 28670 Madrid, Spain
8
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark
*
Author to whom correspondence should be addressed.
†
Authors contributed equally to this work.
Int. J. Mol. Sci. 2020, 21(24), 9621; https://doi.org/10.3390/ijms21249621
Submission received: 16 November 2020 / Revised: 11 December 2020 / Accepted: 15 December 2020 / Published: 17 December 2020
(This article belongs to the Special Issue Genetic Basis and Epidemiology of Myopathies)
Versions Notes

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.
Keywords: glycogen storage diseases; animal models; therapy glycogen storage diseases; animal models; therapy

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MDPI and ACS Style

Almodóvar-Payá, A.; Villarreal-Salazar, M.; de Luna, N.; Nogales-Gadea, G.; Real-Martínez, A.; Andreu, A.L.; Martín, M.A.; Arenas, J.; Lucia, A.; Vissing, J.; et al. Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int. J. Mol. Sci. 2020, 21, 9621. https://doi.org/10.3390/ijms21249621

AMA Style

Almodóvar-Payá A, Villarreal-Salazar M, de Luna N, Nogales-Gadea G, Real-Martínez A, Andreu AL, Martín MA, Arenas J, Lucia A, Vissing J, et al. Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. International Journal of Molecular Sciences. 2020; 21(24):9621. https://doi.org/10.3390/ijms21249621

Chicago/Turabian Style

Almodóvar-Payá, Aitana, Mónica Villarreal-Salazar, Noemí de Luna, Gisela Nogales-Gadea, Alberto Real-Martínez, Antoni L. Andreu, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, John Vissing, and et al. 2020. "Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models" International Journal of Molecular Sciences 21, no. 24: 9621. https://doi.org/10.3390/ijms21249621

APA Style

Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A. L., Martín, M. A., Arenas, J., Lucia, A., Vissing, J., Krag, T., & Pinós, T. (2020). Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. International Journal of Molecular Sciences, 21(24), 9621. https://doi.org/10.3390/ijms21249621

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