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TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC(S75Y) Cardiomyopathy

A de novo missense variant in Rag GTPase protein C (RagC(S75Y)) was recently identified in a syndromic dilated cardiomyopathy (DCM) patient. However, its pathogenicity and the related therapeutic strategy remain unclear. We generated a zebrafish Rragc(S56Y) (corresponding to human RagC(S75Y)) knock-...

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Detalles Bibliográficos
Autores principales: Kim, Maengjo, Lu, Linghui, Dvornikov, Alexey V., Ma, Xiao, Ding, Yonghe, Zhu, Ping, Olson, Timothy M., Lin, Xueying, Xu, Xiaolei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197163/
https://www.ncbi.nlm.nih.gov/pubmed/34071043
http://dx.doi.org/10.3390/ijms22115494

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