Publications by authors named "V Ladeveze"
CFTR complex alleles and phenotypic variability in cystic fibrosis disease.
Cell Mol Biol (Noisy-le-grand)
September 2024
Cystic fibrosis (CF) is inherited by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. A variety of mutations have been identified in the CFTR gene that may be associated with cystic fibrosis, and these mutations demonstrate extensive molecular genetic heterogeneity in this disease. Little is known about the molecular mechanism by which mutations affect CFTR function, and only a minority of mutations have been characterized by functional studies.
View Article and Find Full Text PDFThe monocarboxylate transporter 4 (MCT4; Slc16a3) is expressed in the central nervous system, notably by astrocytes. It is implicated in lactate release and the regulation of glycolytic flux. Whether its expression varies during normal and/or pathological aging is unclear.
View Article and Find Full Text PDFThree Complex alleles associated with N1303K mutation and their molecular consequences.
Cell Mol Biol (Noisy-le-grand)
April 2022
Article Synopsis
- * This study aimed to identify complex alleles with the N1303K mutation among patients from Lebanon, Egypt, and France by using PCR amplification and DNA sequencing.
- * Results indicate that N1303K, along with associated polymorphisms, leads to abnormal CFTR mRNA splicing, affecting the protein's quality and quantity, which may influence the severity of Cystic Fibrosis symptoms.
Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.
Cell Mol Biol (Noisy-le-grand)
November 2017
Article Synopsis
- * The specific mutation c.3909C>G (p.Asn1303Lys) was analyzed for its impact on protein processing using immunofluorescence and western blot techniques.
- * Results indicated that the p.Asn1303Lys mutation leads to abnormal protein folding and function, suggesting that a combination of drugs may be necessary for effective treatment.
Article Synopsis
- - Cystic fibrosis is linked to mutations in the CFTR gene, which can impact the CFTR protein's location and function as a chloride channel in epithelial cells.
- - The study focused on the c.965T>C mutation, which causes a change from valine to alanine in the CFTR protein, using both computer simulations and cell analysis.
- - Results indicated that this specific mutation likely does not affect the CFTR protein's function in the tested cell line, but doctors should exercise caution and monitor patients with this mutation if they have other mutations as well.