Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adultsdilated cardiomyopathy, tafazzin, genetics, Barth syndrome, neutropenia, genetic counselingBarth syndrome is an X-linked genetic condition featuring neutropenia, skeletal myopathy, and dilated cardiomyopathy in boys due to tafazzin...
Gene ID:6901TAZ UniProt:Q16635TAZ 研究领域 代谢科研 代谢科研 脂解和β-氧化 GTX81015 WB Image WB analysis of MDA-MB231 and NCI-H460 cell lysate (35ug/lane) using GTX81015 TAZ antibody, N-term. GTX81015 WB Image WB analysis of MCF-7 and NCI-H460 cell using GTX81015 TAZ antibody, ...
Gene ID (NCBI) 6901 Alternative Names TAZ; BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1; tafazzin; Application Notes: The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user. ...
目录号:IPB6339 库存:现货 规格 产品信息 Catalog No :IPB6339 Reactivity:Human; Mouse; Rat Applications:WB; ELISA Dilution:WB: 1:500-1:2000 ELISA: 1:5000 Gene Name:TAZ Protein Name:Tafazzin Human Gene Id:6901 Swiss-Prot:Q16635 Formulation:Liquid in PBS containing 50% glycerol, 05% BSA and...
Barth syndrome (BTHS) is a rare disorder caused by mutations in the TAFAZZIN gene. Previous studies from both patients and model systems have established metabolic dysregulation as a core component of BTHS pathology. In particular, features such as lacti
Barth Syndrome (BTHS) is caused by a single gene mutation affecting mitochondria and resulting in dilated cardiomyopathy, growth delay, neutropenia and severe exercise intolerance. This gene, Tafazzin (TAZ) located at Xq28, is responsible for cardiolipin (CL) remodeling in the inner mitochondrial ...
The Mitochondrial Quality Control Protein Yme1 Is Necessary to Prevent Defective Mitophagy in a Yeast Model of Barth Syndrome The Saccharomyces cerevisiae TAZ1 gene is an orthologue of human TAZ; both encode the protein tafazzin. Tafazzin is a transacylase that transfers acyl chai... GJ Gaspard,...
PCR was performed using the gene specific primers indicated in Table 1. Amplicons were measured using real-time quantitative PCR using Realplex2 Mastercycler (eppendorf) and mRNA levels were normalized to TFIIB using a standard curve. The abbreviations for mRNAs are: transcription factor II B (...
We tested whether TAFAZZIN gene therapy could be enhanced with the addition of a cell-penetrating peptide, penetratin (Antp). We found that TAFAZZIN-Antp was more effective than TAFAZZIN at preventing the development of pathological cardiac hypertrophy and heart failure. These findings indicate that...
Barth syndrome (BTHS) is a rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN, which leads to abnormal cardiolipin (CL) metabolism on the inner mitochondrial membrane. Although TAFAZZIN is ubiquitously expressed, BTHS involves a complex combination of tissue specific ...