TY - JOUR A1 - Nogales-Gadea, Gisela AU - Santalla Hernández, Alfredo AU - Brull, Astrid AU - Luna, Noemí de AU - Lucía Mulas, Alejandro AU - Pinós, Tomás T1 - The pathogenomics of McArdle disease-genes, enzymes, models, and therapeutic implication Y1 - 2015 SN - 01418955 UR - http://hdl.handle.net/11268/3735 AB - Numerous biomedical advances have been made since Carl and Gerty Cori discovered the enzyme phosphorylase in the 1940s and the Scottish physician Brian McArdle reported in 1951 a previously 'undescribed disorder characterized by a gross failure of the breakdown in muscle of glycogen'. Today we know that this disorder, commonly known as 'McArdle disease', is caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (GP). Here we review the main aspects of the 'pathogenomics' of this disease including, among others: the spectrum of mutations in the gene (PYGM) encoding muscle GP; the interplay between the different tissue GP isoforms in cellular cultures and in patients; what can we learn from naturally occurring and recently laboratory-generated animal models of the disease; and potential therapies. KW - Metabolismo - Glucosa - Enfermedades KW - Enfermedades - McArdles KW - Metabolismo - Enfermedades KW - Ciencia KW - Ciencias médicas LA - eng ER -