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Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

BACKGROUND: Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly established yet, Wnt and mTOR signaling pathways impairment in LGMDR1 muscles has b...

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Detalles Bibliográficos
Autores principales: Rico, Anabel, Valls, Andrea, Guembelzu, Garazi, Azpitarte, Margarita, Aiastui, Ana, Zufiria, Mónica, Jaka, Oihane, López de Munain, Adolfo, Sáenz, Amets
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565977/
https://www.ncbi.nlm.nih.gov/pubmed/37817200
http://dx.doi.org/10.1186/s13023-023-02873-5