2026-04-17T01:46:12Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/88742025-10-24T10:20:25Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Villarreal Salazar, Mónica Azucena author Brull, Astrid author Nogales-Gadea, Gisela author Andreu Périz, Antonio Luis author Martín, Miguel A. author Pinós Figueras, Tomàs author Arenas, Joaquin author 2023-01-18T11:34:50Z 2023-01-18T11:34:50Z 2022-12-28 McArdle disease; Glycogen phosphorylase; Research models Enfermedad de McArdle; Glucógeno fosforilasa; Modelos de investigación Malaltia de McArdle; Glicogen fosforilasa; Models de recerca McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute “crises” of early fatigue, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. In the present work, we describe the existing in vitro and in vivo preclinical models for McArdle disease and review the insights these models have provided. In addition, despite presenting some differences with the typical patient’s phenotype, these models allow for a deep study of the different features of the disease while representing a necessary preclinical step to assess the efficacy and safety of possible treatments before they are tested in patients. The present manuscript was funded by grants received from the Fondo de Investigaciones Sanitarias (FIS, grant PI19/01313 and PI17/2052) and co-funded by “Fondos FEDER”. http://hdl.handle.net/11351/8874 Metabolisme, Errors congènits del - Tractament Múscul estriat - Patogènesi DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Glycogen Storage Disease::Glycogen Storage Disease Type V Other subheadings::Other subheadings::/therapy ANATOMY::Musculoskeletal System::Muscles::Muscle, Skeletal ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::enfermedad por almacenamiento de glucógeno::enfermedad por almacenamiento de glucógeno tipo V Otros calificadores::Otros calificadores::/terapia ANATOMÍA::sistema musculoesquelético::músculos::músculo esquelético Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies