ReviewJournal of inherited metabolic disease1999
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).
Review in Journal of inherited metabolic disease, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 169 citations in OpenAlex.
- Saturated cardiolipins are potent disruptors of inner mitochondrial membrane structure and function.bioRxiv : the preprint server for biology · 2026Article
- Rescue of mitochondrial dysfunction through alteration of extracellular matrix composition in barth syndrome cardiac fibroblasts.Biomaterials · 2025Article
- The flexible chain: regulation of structure and activity of ETC complexes defines rate of ATP synthesis and sites of superoxide generation.Biophysical reviews · 2025Review
- Neutropenia in Childhood-A Narrative Review and Practical Diagnostic Approach.Hematology reports · 2024Review
- Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis.Heliyon · 2024Review
- Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy.Frontiers in molecular medicine · 2024Article
- Advances in methods to analyse cardiolipin and their clinical applications.Trends in analytical chemistry : TRAC · 2022Article
- Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.Human molecular genetics · 2022Article
- Matrix produced by diseased cardiac fibroblasts affects early myotube formation and function.Acta biomaterialia · 2022Article
- Lipid Readjustment inBiomolecules · 2022Article
- Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome.Frontiers in molecular biosciences · 2022Article
- Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.American journal of medical genetics. Part A · 2021Article
- A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.The Journal of molecular diagnostics : JMD · 2021Article
- The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome.Frontiers in physiology · 2021Article
- Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria.The Journal of biological chemistry · 2020Article
- Phospholipid ebb and flow makes mitochondria go.The Journal of cell biology · 2020Review
- Loss of the mitochondrial lipid cardiolipin leads to decreased glutathione synthesis.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Article
- Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2019Article
- Barth syndrome: mechanisms and management.The application of clinical genetics · 2019Article
- Loss of tafazzin results in decreased myoblast differentiation in C2C12 cells: A myoblast model of Barth syndrome and cardiolipin deficiency.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2018Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms: Barth syndrome, 3-methylglutaconic acid-uria type II, endocardial fibroelastosis type 2) has been reported in patients and families from Europe, North America and Australia. Previous studies characterized the main components of the disease: dilated cardiomyopathy, skeletal myopathy, neutropenia, 3-methylglutaconic aciduria and diminished statural growth. Respiratory chain impairments have been found in several studies, without pinpointing a single enzyme complex. 3-Methylglutaconic aciduria is shared with several other disorders that affect the respiratory chain. Previous studies excluded a block in the major pathway of leucine catabolism. We performed leucine loading, accompanied by fasting, in patients and observed a significant rise of 3-methylglutaconic acid and 3-methylglutaric acid. Taken together with the absence of an enzymatic block in the major leucine catabolic route, the possibility remains that the increased basal excretion of 3-methylglutaconic acid and other products of branched-chain amino acids is the result of overload of this pathway or--more likely--mitochondrial leakage. Linkage studies have localized the gene to the Xq28 region. The associated tafazzin gene (TAZ), has been fully characterized recently, and mutations located in conserved regions have been reported. Carrier detection and prenatal diagnosis have now become possible through mutation analysis. Sequence homology of the TAZ gene to a highly conserved superclass of acyltransferases (Neuwald's hypothesis) predicts a glycerophospholipid as the missing end product. This points to the (lipid) structure of the inner mitochondrial membrane as a promising new area of research.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.