1. Study characterized structural and metabolic adaptations in Barth syndrome patients primary skin fibroblasts and provided novel insights into the molecular details of supercomplex destabilization, aberrant cristae morphology and metabolic changes resulting from TAZ mutations. PMID: 30251684
2. Molecular mechanisms of TAZ protein in the lung physiological conditions and lung diseases.[review] PMID: 30385178
3. We report a novel TAZ gene mutation in male and female siblings with left ventricular noncompaction and hypotonia. Additionally, the brother presented an intermittent neutropenia and increased urinary levels of 3-methylglutaconic and 3-methylglutaric acid. The molecular genetic testing showed that both siblings carry the mutation: c.253insC, p.(Arg85Profs*54) in exon 3 of the TAZ gene. Normal karyotype female. PMID: 30226969
4. Report left ventricular non-compaction associated with Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes in multiple members of one family. PMID: 29508483
5. TAZ overexpression is associated with poor response to chemotherapy in chronic myeloid leukemia. PMID: 29387948
6. High TAZ expression is associated with cisplatin-resistance in gastric cancer. PMID: 28534974
7. This is the first report of systematic mutation screening of TAZ in a large cohort of pediatric patients with primary cardiomyopathy using the NGS approach. TAZ mutations were found in 4/114 (3.5%) male patients with primary cardiomyopathy. Our findings indicate that the inclusion of TAZ gene testing in cardiomyopathy genetic testing panels may contribute to the early diagnosis of BTHS. PMID: 28183324
8. TAZ mutation-confirmed diagnosis of Barth syndrome (BTHS) was available for 39/42 of the participants. Of 39 patients, 13 have a missense mutation, 6 have a nonsense mutation, 8 have a splicing mutation, 6 have a small out-of-frame insertion or deletion, 2 have a small in-frame insertion, and 4 have a large deletion encompassing several exons PMID: 26845103
9. TAZ is overexpressed in cervical cancer and may promote tumorigenicity of cervical cancer cells and inhibit apoptosis. PMID: 28489874
10. TAZ mutation is associated with Barth syndrome. PMID: 26908608
11. Molecular analysis of at risk female family members identified the patient's sister and mother as heterozygous carriers. Apparently harmless synonymous variants in the TAZ gene can damage gene expression. Such findings widen our knowledge of molecular heterogeneity in Barth syndrome. PMID: 26853223
12. two novel and non-identical TAZ gene rearrangements were found in the offspring of a single female carrier of Barth syndrome. PMID: 25782672
13. Tafazzin deficiency in mouse embryonic fibroblasts also led to impaired oxidative phosphorylation and severe oxidative stress PMID: 25919711
14. ability of CL-ND to elicit a physiological response was examined in an HL60 cell culture model of Barth Syndrome neutropenia. siRNA knockdown of the phospholipid transacylase, tafazzin (TAZ), induced apoptosis in these cells PMID: 26164234
15. novel mutation in exon 1 of the TAZ gene and female mosaicism in three generations of a Polish family with Barth syndrome PMID: 25776009
16. mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes PMID: 25247053
17. Strong expression of TAZ protein seems to be related to rectal cancer development and RT response, it can be a predictive biomarker of distant recurrence in patients with preoperative RT. PMID: 24858921
18. Three novel hemizygous mutations in the TAZ gene were found (c.584G>T; c.109+6T>C; c.86G>A). We conclude that Barth syndrome should be included in differential diagnosis of cardiomyopathy in childhood. PMID: 24093814
19. Results show that in both healthy controls and in Barth syndrome patients, a greater variety of alternatively spliced forms than previously described was found. It includes a sizeable proportion of minor splice variants besides the four dominant isoforms. PMID: 24342716
20. data suggest that genes other than G4.5 are responsible for the familial form of noncompaction of the ventricular myocardium PMID: 23359024
21. study reports five new TAZ gene mutations in six unrelated Barth Syndrome patients, including two new gross gene rearrangements PMID: 23409742
22. Basal levels of superoxide anion production were slightly higher in patients' cells than in control cells as previously evidenced via an increased protein carbonylation in the taz1Delta mutant in the yeast. PMID: 23523468
23. The underlying molecular defects in Barth syndrome are truncation, deletion or substitution mutations in the TAZ gene, resulting in loss-of-function of tafazzin. Review. PMID: 23432031
24. The identification of TAZ mutation has major impact on their medical care as the surveillance needs to be expanded to cover for the Barth syndrome, a severe metabolic phenotype also caused by TAZ mutation, in addition to DCM. PMID: 23345479
25. Tafazzin activity is critical for the differentiation of cardiomyocytes. (Review) PMID: 23200781
26. A novel, hemizygous nonsense mutation in TAZ exon 7 (c.583G>T, p.Gly195X) was detected in an infant with Barth syndrome with dilated cardiomyopathy and heart failure and in his great-uncle with left ventricular noncompaction. PMID: 23031367
27. Mutations in the Xq28 gene G4.5 lead to dilated cardiomyopathy associated with ultrastructural changes in mitochodria of heart, liver and skeletal muscle. PMID: 11896212
28. one splice variant of TAZ most likely represents the only physiologically important mRNA, at least with regard to cardiolipin metabolism PMID: 12930833
29. human TAZ has a role in mitochondrial dysfunction in Barth syndrome PMID: 15304507
30. Motif, critical for the glycerolphosphate acyltransferase family, was observed in human tafazzin. The presence of a mutation in this region in Barth syndrome patients indicates that this motif is essential for tafazzin function. PMID: 15499385
31. Data show that the tafazzin 1 interactome defined here provides novel insight into the variable respiratory defects and morphological abnormalities observed in mitochondria of BTHS patients. PMID: 18799610
32. A 5.5-month old boy with Barth's syndrome phenotype had a novel missense T43P mutation in exon 2 of the TAZ gene. His mother was heterozygous for this mutation. PMID: 19261493
33. the characteristic fatty acid profile of cardiolipin is not determined by the substrate specificity of tafazzin PMID: 19700766

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Barth syndrome (BTHS)

Mitochondrion outer membrane; Peripheral membrane protein; Intermembrane side. Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.; [Isoform 1]: Mitochondrion membrane.; [Isoform 2]: Cytoplasm.; [Isoform 3]: Mitochondrion membrane.; [Isoform 5]: Mitochondrion membrane.; [Isoform 6]: Cytoplasm.; [Isoform 7]: Mitochondrion membrane.; [Isoform 8]: Cytoplasm.; [Isoform 9]: Cytoplasm.

Taffazin family

High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal

HGNC: 11577

OMIM: 300394

KEGG: hsa:6901

STRING: 9606.ENSP00000299328

UniGene: Hs.409911