TY - JOUR 
A1 - Almodóvar Payá, Aitana
AU - Villarreal Salazar, Mónica
AU - Luna, Noemí de
AU - Nogales-Gadea, Gisela
AU - Real Martínez, Alberto
AU - Andreu, Antoni L.
AU - Martín, Miguel Ángel
AU - Arenas, Joaquín
AU - Lucía Mulas, Alejandro
AU - Vissing, John
AU - Krag, Thomas O.
AU - Pinós, Tomás
T1 - Preclinical research in glycogen storage diseases: A comprehensive review of current animal models
Y1 - 2020
SN - 1422-0067
UR - http://hdl.handle.net/11268/11234
AB - 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. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
KW - Glucógeno
KW - Enzimas
KW - Terapia
KW - Enfermedad
LA - eng
ER -