• The TAFAZZIN gene provides instructions for producing a protein called tafazzin, which is localized to mitochondria, the energy-producing centers of cells. (wikipedia.org)
  • The half-life of tafazzin is just 3-6 hours, considerably shorter than most mitochondrial proteins, which may explain research difficulties in studying its structure. (wikipedia.org)
  • Tafazzin localizes with peripheral association to membrane leaflets between the inner mitochondrial membrane (IMM) and outer mitochondrial membrane (OMM), facing the intermembrane space (IMS). (wikipedia.org)
  • Tafazzin transacylase activity is responsible for cardiolipin remodeling, critical to maintaining mitochondrial inner membrane structure and function. (wikipedia.org)
  • Differential expression analysis revealed significant changes in gene expression between HCM and the control tissue, and functional enrichment analysis indicated that these genes were primarily involved in interferon production and mitochondrial energetics. (bvsalud.org)
  • Within the HCM tissue, differentially expressed genes between areas of normal and severe disarray were enriched for genes related to mitochondrial energetics and the extracellular matrix in severe disarray. (bvsalud.org)
  • Barth Syndrome, a rare X-linked disorder affecting 1:300,000 live births, results from defects in Tafazzin, an acyltransferase that remodels cardiolipin and is essential for mitochondrial respiration. (bvsalud.org)
  • See Targeted Genes and Methodology Details for Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies in Method Description for additional details. (testcatalog.org)
  • The tafazzin protein is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. (medlineplus.gov)
  • Once altered by tafazzin, cardiolipin is key in maintaining mitochondrial shape, energy production, and protein transport within cells. (medlineplus.gov)
  • These mitochondrial responses are governed by general principles of regulatory biology exemplified by changes in gene expression, protein translation, protein complex formation, transmembrane transport, enzymatic activities and metabolite levels. (nature.com)
  • mean age at assessment 11y, range 1-25y) through gene panels (n=11), whole-exome sequencing (n=13), and mitochondrial DNA (mtDNA) sequencing (n=6). (biomed.news)
  • In this study, we analyzed the transcriptional changes of nuclear-encoded mitochondrial (NEM) genes in eight NDDs to specifically address the association of these genes with the diseases. (biomed.news)
  • Tafazzin is a protein that in humans is encoded by the TAFAZZIN gene. (wikipedia.org)
  • Several different isoforms of the tafazzin protein are produced from the TAFAZZIN gene. (wikipedia.org)
  • It is important to note that the TAZ gene was frequently confused with a protein called TAZ (transcriptional coactivator with PDZ-binding motif, a 50 kDA protein). (wikipedia.org)
  • The Hippo pathway TAZ protein has an official gene symbol of WWTR1. (wikipedia.org)
  • The TAFAZZIN gene produces a 21.3 kDa protein composed of 184 amino acids. (wikipedia.org)
  • The TAFAZZIN gene contains two peptides independent of its active site for directing the protein to the mitochondria, forming residues 84-95 in exon 3 and residues 185-200 in exon 7/8 targets. (wikipedia.org)
  • An analysis of the gene expression of the ligand-receptor pair revealed that the HCM tissue exhibited downregulation of platelet-derived growth factor (PDGF), NOTCH, junctional adhesion molecule, and CD46 signaling while showing upregulation of fibronectin, CD99, cadherin, and amyloid precursor protein signaling. (bvsalud.org)
  • Description: Quantitativesandwich ELISA kit for measuring Human Tumor susceptibility gene 101 protein (TSG101) in samples from serum, plasma, tissue homogenates, cell lysates. (1elisakits.com)
  • Description: Quantitative sandwich ELISA for measuring Human Tumor susceptibility gene 101 protein (TSG101) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids. (1elisakits.com)
  • The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • The TAFAZZIN gene provides instructions for making a protein called tafazzin. (medlineplus.gov)
  • In Barth syndrome, the body is unable to make a protein called tafazzin properly. (hrsa.gov)
  • We then carried out differential gene expression analysis and pathway enrichment analysis to pinpoint differentially expressed genes that are potentially associated with one or more of the analyzed NDDs. (biomed.news)
  • Seven functional classes of TAFAZZIN mutations have been classified based on the pathogenic loss-of-function mechanisms of each mutation. (wikipedia.org)
  • SwissProt sequences and OMIM curated human diseases associated with missense mutations within the PlsC domain. (embl-heidelberg.de)
  • TAFAZZIN gene mutations result in the production of tafazzin proteins with little or no function. (medlineplus.gov)
  • Cancer genome sequencing reveals diverse acquired mutations in CTCF , which we have shown, functions as a tumour suppressor gene. (preprints.org)
  • At present, no effective therapy exists, and downstream transcriptional effects of Tafazzin dysfunction are incompletely understood. (bvsalud.org)
  • Tafazzin is highly expressed in cardiac and skeletal muscle, and functions as a phospholipid-lysophospholipid transacylase (it belongs to phospholipid:diacylglycerol acyltransferases). (wikipedia.org)
  • Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. (testcatalog.org)
  • MCAD deficiency is caused by pathogenic variants in the medium-chain acyl-CoA dehydrogenase gene ( ACADM ). (medicover-genetics.com)
  • Associations of DPP9 with human liver cancer, exonic single nucleotide polymorphisms (SNPs) in DPP9 and loss of function (LoF) variants have not been explored. (preprints.org)
  • Human genomic databases including The Cancer Genome Atlas (TCGA) were interrogated to identify DPP9 LoF variants and associated cancers. (preprints.org)
  • This domain occurred 14 times on human genes ( 18 proteins). (umbc.edu)
  • As a result, tafazzin cannot alter cardiolipin, and levels of functional cardiolipin are reduced. (medlineplus.gov)
  • Tafazzin plays an important role in building your mitochondria, the parts of your cells that produce energy. (hrsa.gov)
  • Our team has successfully developed an efficient inducible spCas9 gene editing system in hPSCs, achieving a knockout efficiency of over 90% for the target genes. (eemea.org)
  • Using this database, researchers can quickly retrieve the expression level data for target genes in different tissues and in response to different treatments to elucidate gene functions and explore the biology of rapeseed at the transcriptome level. (preprints.org)
  • Ubigene exclusive KO Cell Line Bank, over 5000 KO cell lines, covering thousands of genes from 8 popular signaling pathways and nearly 100 diseases. (ubigene.us)
  • Enriched pathways analysis of these positively correlated genes featured Toll-like receptor and SUMOylation pathways. (preprints.org)
  • Previous studies show strong links between defects in NEM genes and neurodegeneration, yet connecting specific genes with NDDs is not well studied. (biomed.news)
  • There is no cure or specific treatment, but new research at Boston Children's Hospital suggests that gene therapy could prevent or reverse cardiac dysfunction. (ubigene.us)
  • TAZ gene therapy also prevented cardiac dysfunction and scarring when given to newborn mice, and reversed established cardiac dysfunction in older mice -- whether the mice had whole-body or heart-only TAZ deletions. (ubigene.us)
  • The putative phospholipid-binding site, which is the active site of Tafazzin, is a 57 amino acid cleft with two open ends and positively charged residues. (wikipedia.org)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human NAD Kinase (NADK) in Tissue homogenates, cell lysates and other biological fluids. (1elisakits.com)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Peroxiredoxin 6 (PRDX6) in samples from serum, plasma, tissue homogenates and other biological fluids with no significant corss-reactivity with analogues from other species. (lotuskringpoeldijk.nl)
  • Description: A sandwich ELISA kit for detection of Tumor Susceptibility Gene 101 from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (1elisakits.com)
  • Description: A sandwich quantitative ELISA assay kit for detection of Human Peroxiredoxin 6 (PRDX6) in samples from serum, plasma, tissue homogenates or other biological fluids. (lotuskringpoeldijk.nl)
  • Description: Quantitative sandwich ELISA for measuring Human Peroxiredoxin-6 (PRDX6) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids. (lotuskringpoeldijk.nl)
  • Description: A sandwich quantitative ELISA assay kit for detection of Human Claudin 5 (CLDN5) in samples from serum, plasma, tissue homogenates, cell lysates or other biological fluids. (lotusbiotechnologies.com)
  • Description: A competitive ELISA for quantitative measurement of Human Claudin 5(CLDN5) in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (lotusbiotechnologies.com)
  • High expression of genes that positively correlated with overexpression of DPP4, DPP8, and DPP9 were associated with very poor survival in HCC. (preprints.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Their hearts also showed scarring, and, similar to human patients with dilated cardiomyopathy, the heart's left ventricle was dilated and thin-walled. (ubigene.us)
  • RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. (mcw.edu)
  • The emergence and application of human pluripotent stem cells (hPSCs) and gene editing have provided immense hope for research and treatment of these diseases. (eemea.org)
  • Human growth hormone (hGH) is widely used to treat several diseases for decades. (lotusbiotechnologies.com)
  • In addition, tafazzin localizes to the membrane leaflets facing the intermembrane space (IMS), which is crucial for remodeling. (wikipedia.org)
  • Our findings propose a strong link between NEM genes and NDDs and suggest that our identified candidate genes can be potentially used as diagnostic markers and therapeutic targets. (biomed.news)
  • Survival and gene signature analyses were performed on hepatocellular carcinoma (HCC) data. (preprints.org)
  • Human dermal fibroblast (HDF) was used to validate collagen synthesis, while HaCaT cells, a human keratin cell line, were used to verify absorption capability. (eemea.org)
  • Getting the g ene in Further tests showed that TAZ gene therapy provided durable treatment of the animals' cardiomyocytes and skeletal muscle cells, but only when at least 70 percent of heart muscle cells had taken up the gene. (ubigene.us)
  • Genes down-regulated in comparison of dendritic cells (DC) stimulated with CpG DNA (TLR9 agonist) at 6 h versus DC cells stimulated with Gardiquimod (TLR7 agonist) at 6 h. (gsea-msigdb.org)
  • We examined the consequences of CTCF depletion in immortalised human and mouse cells using shRNA knockdown and CRISPR/Cas9 genome editing and examined the growth and development of heterozygous Ctcf ( Ctcf +/- ) mice. (preprints.org)
  • The TAFAZZIN gene is located on the q arm of chromosome X at position 28 and it spans 10,208 base pairs. (wikipedia.org)
  • GGGGCC (G4C2) hexanucleotide repeat expansion (HRE) in the first intron of the chromosome 9 open reading frame 72 (C9ORF72) gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). (qxmd.com)
  • We used this information to develop the BrassicaEDB, including eFP, Treatment, Coexpression, and SRA Project modules based on gene expression profiles and Gene Feature, qPCR Primer, and BLAST modules based on gene sequences. (preprints.org)
  • which is a part of the Hippo pathway and entirely unrelated to the gene of interest. (wikipedia.org)
  • These findings provide crucial theoretical basis and data support for the future clinical translation of gene therapy. (eemea.org)
  • That's where the challenge will lie in translating the results to humans. (ubigene.us)
  • We determined the expression patterns of 101,040 genes via FPKM analysis and displayed the results using the eFP browser. (preprints.org)
  • Customization of this panel and single gene analysis for any gene present on this panel are available. (testcatalog.org)
  • First, weighted correlation network analysis was performed on an FRDA RNA-Seq data set, focusing only on NEM genes. (biomed.news)
  • This comprehensive data mining suggests that DPP9 is essential for human survival and the DPP4 protease family is important in cancer pathogenesis. (preprints.org)
  • New tests are needed to identify and assess susceptibility to other antibiotics, as there is a possibility that some of these colonies have potential for multidrug resistance in addition to causing serious infections in humans. (fortunejournals.com)
  • At the same time, we already provide customers with high quality gene-editing tools for cell or animal research worldwide. (ubigene.us)
  • All four DPP4-like genes were overexpressed in liver tumours and their joint high expression was associated with poor survival in HCC. (preprints.org)
  • Lastly, we have conducted in vivo gene therapy research using the base editor on transgenic mice with hypertrophic cardiomyopathy and hereditary arrhythmias respectively. (eemea.org)
  • Tafazzin, an acyl-specific transferase, catalyzes the acyl transfer reaction between phospholipids and lysophospholipids in a CoA-independent manner. (wikipedia.org)
  • Giving multiple doses of gene therapy won't work either. (ubigene.us)
  • Areas of interest were interrogated with the Human Cancer Transcriptome Atlas designed to profile 1800 transcripts. (bvsalud.org)