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TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC S75Y Cardiomyopathy

TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC S75Y Cardiomyopathy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_34071043

TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC S75Y Cardiomyopathy

About this item

Full title

TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC S75Y Cardiomyopathy

Publisher

Switzerland

Journal title

International journal of molecular sciences, 2021-05, Vol.22 (11)

Language

English

Formats

Publication information

Publisher

Switzerland

More information

Scope and Contents

Contents

A de novo missense variant in Rag GTPase protein C (RagC
) 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
(corresponding to human RagC
) knock-in (KI) line via TALEN technology. The KI fish manifested...

Alternative Titles

Full title

TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagC S75Y Cardiomyopathy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmed_primary_34071043

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_34071043

Other Identifiers

E-ISSN

1422-0067

DOI

10.3390/ijms22115494

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