Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models
Por:
Almodovar-Paya, A, Villarreal-Salazar, M, De Luna, N, Nogales-Gadea, G, Real-Martinez, A, Andreu, AL, Martin, MA, Arenas, J, Lucia, A, Vissing, J, Krag, T, Pinos, T
Publicada:
1 dic 2020
Resumen:
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.
Filiaciones:
Almodovar-Paya, A:
Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Mitochondrial & Neuromuscular Disorders Unit, Barcelona 08035, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
Villarreal-Salazar, M:
Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Mitochondrial & Neuromuscular Disorders Unit, Barcelona 08035, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
De Luna, N:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
Univ Autonoma Barcelona, Inst Recerca Hosp Santa Creu & St Pau, Lab Malalties Neuromusculars, Barcelona 08041, Spain
Nogales-Gadea, G:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
Univ Autonoma Barcelona, Grp Recerca Malalties Neuromusculars & Neuropedia, Dept Neurosci, Inst Invest Ciencies Salut Germans Trias & Pujol, Badalona 08916, Spain
Univ Autonoma Barcelona, Campus Can Ruti, Badalona 08916, Spain
Real-Martinez, A:
Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Mitochondrial & Neuromuscular Disorders Unit, Barcelona 08035, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
Andreu, AL:
EATRIS, European Infrastruct Translat Med, NL-1081 HZ Amsterdam, Netherlands
Martin, MA:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
12 Octubre Hosp Res Inst I 12, Mitochondrial & Neuromuscular Dis Lab, Madrid 28041, Spain
Arenas, J:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
12 Octubre Hosp Res Inst I 12, Mitochondrial & Neuromuscular Dis Lab, Madrid 28041, Spain
Lucia, A:
European Univ, Fac Sport Sci, Madrid 28670, Spain
Vissing, J:
Univ Copenhagen, Rigshosp, Dept Neurol, Copenhagen Neuromuscular Ctr, DK-2100 Copenhagen, Denmark
Krag, T:
Univ Copenhagen, Rigshosp, Dept Neurol, Copenhagen Neuromuscular Ctr, DK-2100 Copenhagen, Denmark
Pinos, T:
Univ Autonoma Barcelona, Vall dHebron Inst Recerca, Mitochondrial & Neuromuscular Disorders Unit, Barcelona 08035, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain
gold, Green Submitted, Green Published
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