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A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12128220

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes

About this item

Full title

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes

Publisher

England: The Company of Biologists

Journal title

Disease models & mechanisms, 2025-05, Vol.18 (5)

Language

English

Formats

Publication information

Publisher

England: The Company of Biologists

More information

Scope and Contents

Contents

Barth syndrome is a mitochondrial disorder with hallmarks of cardiac and skeletal muscle weakness. It is caused by pathogenic variants in the X-linked gene tafazzin (TAZ), required for cardiolipin remodeling. Previously described germline and conditional Taz knockout models are not ideal for therapeutic development because they lack the combination...

Alternative Titles

Full title

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12128220

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_12128220

Other Identifiers

ISSN

1754-8403

E-ISSN

1754-8411

DOI

10.1242/dmm.052077

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