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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-...
Autores principales: | Kim, Maengjo, Lu, Linghui, Dvornikov, Alexey V., Ma, Xiao, Ding, Yonghe, Zhu, Ping, Olson, Timothy M., Lin, Xueying, Xu, Xiaolei |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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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