Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model
Data(s) |
16/06/2015
01/01/2017
2015
01/01/2017
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Resumo |
McArdle disease, caused by inherited deficiency of the enzyme muscle glycogen phosphorylase (GP-MM), is arguably the paradigm of exercise intolerance. The recent knock-in (p.R50X/p.R50X) mouse disease model allows an investigation of the phenotypic consequences of muscle glycogen unavailability and the physiopathology of exercise intolerance. We analysed, in 2-month-old mice [wild-type (wt/wt), heterozygous (p.R50X/wt) and p.R50X/p.R50X)], maximal endurance exercise capacity and the molecular consequences of an absence of GP-MM in the main glycogen metabolism regulatory enzymes: glycogen synthase, glycogen branching enzyme and glycogen debranching enzyme, as well as glycogen content in slow-twitch (soleus), intermediate (gastrocnemius) and glycolytic/fast-twitch (extensor digitorum longus; EDL) muscles. Fondo de Investigaciones Sanitarias (FIS) PI12/00914 4.731 JCR (2015) Q1, 46/256 Neurosciences, 7/83 Physiology UEM |
Identificador |
Brull, A., Luna, N., Blanco‐Grau, A., Lucía, A., Martín, M. A., Arenas, J., ... & Pinós, T. (2015). Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model. The Journal of physiology, [Epub ahead of print] . 00223751 14697793 http://hdl.handle.net/11268/4007 10.1113/JP270085 |
Idioma(s) |
eng |
Direitos |
embargoedAccess |
Palavras-Chave | #Knock-in mouse #Glycogen phosphorylase #Muscle phenotype #Enfermedades - McArdle #Ejercicio físico #Genética #Ciencia #Salud |
Tipo |
article |