GaTx1, GaTx1 peptide is a CFTR blocker
- Known as:
- GaTx1, GaTx1 short protein sequence a CFTR blocker
- Catalog number:
- 13GTX001-1000
- Product Quantity:
- 1000 ug
- Category:
- -
- Supplier:
- Smartox
- Gene target:
- GaTx1 peptide CFTR blocker
Related genes to: GaTx1, GaTx1 peptide is a CFTR blocker
- Gene:
- CFTR NIH gene
- Name:
- cystic fibrosis transmembrane conductance regulator
- Previous symbol:
- CF, ABCC7
- Synonyms:
- MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP
- Chromosome:
- 7q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: GaTx1, GaTx1 peptide is a CFTR blocker
Related articles to: GaTx1, GaTx1 peptide is a CFTR blocker
- The 1717-1G>A is a prevalent splicing mutation causing cystic fibrosis (CF) for which no pharmacological treatments have been approved. This mutation disrupts a canonical 3' AG splice acceptor site in the () gene, leading to severe RNA missplicing, which prevents the correct synthesis of the encoded protein. In this study, we developed an adenine base editing (ABE) strategy to efficiently correct the 1717-1G>A mutation. By using the ABE9 base editor with the protospacer adjacent motif-relaxed clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9) variant SpRY, we obtained up to 30% editing with limited bystander effects in a human embryonic kidney (HEK) 293-based cellular model. Through systematic optimizations of the ABE system, delivered by electroporation of base editor messenger RNA (mRNA) and single guide RNA (sgRNA), we demonstrated genetic repair of the 1717-1G>A mutation in airway epithelial cells and intestinal organoids derived from people with CF. Functional analysis was performed by measuring short-circuit current in air-liquid interface (ALI) culture and by assessing forskolin-induced swelling (FIS) in intestinal organoids, which revealed restoration of CFTR channel activity. These results highlight SpRY-ABE9 as a potential genome editing strategy to permanently correct the 1717-1G>A mutation and restore CFTR function. - Source: PubMed
Publication date: 2026/04/22
Umbach AlessandroSantini AnnalisaBulcaen MattijsGuidone DanielaMaule GiuliaArosio DanieleCarrozzo IreneCiciani MatteoBrugnara EnricaRamalho AnabelaVermeulen FrançoisGalietta Luis J VCarlon Marianne SCereseto Anna - Biejiajian Pills (BJJP) have demonstrated certain therapeutic effects in the treatment of hepatic fibrosis (HF) in Traditional Chinese medicine practice. However, their underlying mechanism of action remains unclear. This study aimed to investigate the primary compounds of BJJP and their potential mechanisms in treating HF through network pharmacology and experimental validation. By integrating network pharmacology with RF, SVM-RFE, and LASSO algorithms, this study identified that the therapeutic effect of BJJP on HF may be mediated by two signature genes, LYN and CFTR, which were further validated using a validation set. Molecular docking results showed that the main compounds of BJJP, including six compounds such as kaempferol and baicalein, have a strong binding affinity with LYN and CFTR. Through the ssGSEA algorithm, we found that the proportions of six immune cell subsets, including M1 macrophages, M2 macrophages, and resting memory CD4T cells, showed directional changes between the HF group and the control group, and these changes were significantly correlated with the expression of LYN and CFTR. Furthermore, 133 compounds in BJJP were characterized using UHPLC-HRMS. In vivo experiments confirmed that BJJP effectively ameliorated liver function-related biochemical indices and histopathological alterations in mice with HF, downregulated the expression levels of LYN and CFTR, reduced the infiltration of CD45, CD8, CD68, and TNF-α cells, and elevated the proportions of CD4 and CD163 cells. Bioinformatics analyses combined with experimental validation have demonstrated that BJJP exerts therapeutic effects on HF by downregulating the expression of LYN and CFTR and modulating immune function. - Source: PubMed
Publication date: 2026/03/23
Mo ChanWei ZhuolinHe JinnanLiu YuanZheng JiaorongHong MinSong Yuhong - Hypoxia is associated with a range of maladies, inflammation, and impaired immunity. The airway epithelial barrier contends with constant exposure to microbes but can be weakened with hypoxia and diseases, such as cystic fibrosis (CF). People with CF (pwCF) have defective cystic fibrosis transmembrane conductance regulator (CFTR) function leading to reduced immune function, excess mucous accumulation, and chronic infection. CFTR is a cAMP-dependent anion channel that is regulated in part by adenylyl cyclase 6 (AC6). G protein-coupled receptors (GPCRs) such as the chemosensory bitter taste receptors (T2Rs) have been shown to alter inhibitory G proteins and cAMP levels. T2Rs also mediate innate immunity responses and detect quorum sensing molecules (QSMs) through T2R14. The impact of hypoxia on these processes, in human airways, has not yet been characterized. We analyzed protein expression and functional endpoints at normal (21%), mild (10%), and severe (1%) oxygen levels to establish the effects of hypoxia on these processes in human bronchial epithelial cells. Our results show that severe hypoxia leads to decreased AC6 expression without altering Gαi/Gαs/T2R14 compared to wild-type controls. Hypoxia induced ligand and oxygen dependent effects on T2R14 functional responses to fungal QSMs, farnesol, and tyrosol. IL-5 release was increased in QSM treated CF cells at 1% oxygen. Severe hypoxia inhibited forskolin-induced currents due to CFTR and reduced cAMP. These results demonstrate expression level and functional alterations due to hypoxia in airway epithelia, including evidence that reduced AC6 expression and function in severe hypoxia is associated with CFTR dysfunction, establishing a potential link between these proteins and the functional outcome of airway epithelial response to hypoxia. - Source: PubMed
Publication date: 2026/04/17
Cunnington Ryan HSingh NishaShafizadeh MarziyehHanrahan John WDakshinamurti ShyamalaChelikani Prashen - Diseases due to mutations in essential molecules can involve tissues functioning in very different environments, with some in mechanically active environments. Diseases arising from mutations in a single molecule, such as the CFTR in cystic fibrosis exhibit varied clinical phenotypes. The lung cells expressing mutations in CFTR are functioning in the mechanically active environment of the lung, but these mutations may also play an adverse role in the cardiovascular system. Similarly, Marfan syndrome arises from mutations in an extracellular matrix (ECM) molecule, fibrillin-1 and this molecule is also involved in tissues operating in very mechanically active environments. Thus, there is the potential for genetic variants with or without clinical symptoms individually to interact in the same individual to exhibit a unique interdependent phenotype involving disruption of the "Cell-ECM" relationship. Although the clinical phenotypes for the CFTR and fibrillin-1 individually are rare, both molecules are known to each have >500 mutations. This may be one example of a molecular pair that could uniquely interact, influencing cell function. This article will discuss this premise and address the potential basis for complementarity using CFTR and fibrillin-1 as examples. - Source: PubMed
Hart David A - The aim of this study was to evaluate oral health in paediatric and adult patients affected by cystic fibrosis (CF). A systematic review was conducted following PRISMA guidelines. Electronic search was performed on scientific databases to identify studies reporting relevant oral health parameters. Eleven studies met inclusion criteria, mostly cross-sectional and from tertiary care settings. Paediatric CF cohorts showed caries risk comparable or lower than controls but a higher prevalence of developmental enamel defects (DDE) and altered salivary function. Adult CF patients exhibited increased DMFT scores with more untreated decay, while severe periodontitis (PD ≥ 6 mm) remained rare despite high plaque accumulation. CF is associated with a distinctive oral health profile, characterized by age-dependent caries risk, frequent enamel anomalies, altered salivary physiology, and relatively preserved periodontal status. Standardized longitudinal studies are needed to clarify these associations, evaluate CFTR modulators effects, and support the integration of dental care within multidisciplinary CF management. - Source: PubMed
Publication date: 2026/04/14
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