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Article

TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagCS75Y Cardiomyopathy.

International journal of molecular sciences - 23 May 2021

Kim Maengjo, Lu Linghui, Dvornikov Alexey V, Ma Xiao, Ding Yonghe, Zhu Ping, Olson Timothy M, Lin Xueying, Xu Xiaolei

Abstract excerpt

A de novo missense variant in Rag GTPase protein C (RagCS75Y) was recently identified in a syndromic dilated cardiomyopathy (DCM) patient. However, its pathogenicity and the related therapeutic strategy remain unclear. We generated a zebrafish RragcS56Y (corresponding to human RagCS75Y) knock-in (KI) line via TALEN technology. The KI fish manifested cardiomyopathy-like phenotypes and poor survival. Overexpression...

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Identifiers

PMID: 34071043
DOI: 10.3390/ijms22115494
PMCID: PMC8197163

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