Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency.

Human gene therapy - 1 Jul 2011

Soustek Meghan S, Falk Darin J, Mah Cathryn S, Toth Matthew J, Schlame Michael, Lewin Alfred S, Byrne Barry J

Abstract excerpt

Barth's syndrome (BTHS) is an X-linked mitochondrial disease that is due to a mutation in the Tafazzin (TAZ) gene. Based on sequence homology, TAZ has been characterized as an acyltransferase involved in the metabolism of cardiolipin (CL), a unique phospholipid almost exclusively located in the mitochondrial inner membrane. Yeast, Drosophila, and zebrafish models have been invaluable in elucidating the role of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyltransferases
Share to Animals, Genetically Modified

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrocardiography

Share to Gene Knockdown Techniques

Share to Microscopy, Electron

Share to Muscle, Skeletal

Share to Myocardium

Share to RNA, Small Interfering

Source

Open in PubMed Open full text

Identifiers

PMID: 21091282
DOI: 10.1089/hum.2010.199
PMCID: PMC3166794

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency.PMID 21091282Read ↗

A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice.Semantic proximity Read ↗

Cardiolipin Remodeling Defects Impair Mitochondrial Architecture and Function in a Murine Model of Barth Syndrome Cardiomyopathy.Semantic proximity Read ↗

Cardiolipin remodeling by TAZ/tafazzin is selectively required for the initiation of mitophagy.Semantic proximity Read ↗

Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth SyndromeSemantic proximity Read ↗

Restoration of mitophagy ameliorates cardiomyopathy in Barth syndromeSemantic proximity Read ↗

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes.Semantic proximity Read ↗

Defining functional classes of Barth syndrome mutation in humans.Semantic proximity Read ↗

Experimental models of Barth syndrome.Semantic proximity Read ↗

Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome.Semantic proximity Read ↗

Barth syndrome cellular models have dysregulated respiratory chain complex I and mitochondrial quality control due to abnormal cardiolipinSemantic proximity Read ↗

Tafazzin Knockdown in Mice Leads to a Developmental Cardiomyopathy With Early Diastolic Dysfunction Preceding Myocardial NoncompactionSemantic proximity Read ↗

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.