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

Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy.

Lipids - 1 Feb 2017

Ikon Nikita, Ryan Robert O

Abstract excerpt

The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid-uria, skeletal muscle weakness and cardiomyopathy. The underlying cause of BTHS has been definitively traced to mutations in the tafazzin (TAZ) gene locus on chromosome X. TAZ encodes a phospholipid transacylase...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Myocardium
Share to Mitochondria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Acyltransferases

Share to Adenosine Triphosphate

Share to Cardiolipins

Share to Electron Transport

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 28070695
DOI: 10.1007/s11745-016-4229-7
PMCID: PMC5288132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy.PMID 28070695Read ↗

Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy.Semantic proximity Read ↗

Cardiolipin metabolism and Barth Syndrome.Semantic proximity Read ↗

The Role of Cardiolipin in Cardiovascular HealthSemantic proximity Read ↗

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

Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.Semantic proximity Read ↗

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

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

Tafazzin-Mediated Cardiolipin Remodeling Controls Metabolic Stress Response and Effector Function of Inflammatory T CellsSemantic proximity Read ↗

Phospholipid abnormalities in children with Barth syndrome.Semantic proximity Read ↗

Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation.Semantic proximity Read ↗

The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype.Semantic proximity Read ↗

Integrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac TissueSemantic proximity Read ↗

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