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

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

Abstract 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 muscl...

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Detalhes bibliográficos
Principais autores: Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz
Formato: Artigo
Idioma:English
Publicado em: BMC 2023-10-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
LGMDR1
Calpain 3
Cell culture
Metabolism
Myoblast
Myotubes
Acesso em linha:https://doi.org/10.1186/s13023-023-02873-5

Internet

https://doi.org/10.1186/s13023-023-02873-5

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