The F508del mutation removes a single amino acid from the CFTR protein . Without this building block, the CFTR protein cannot stay in the correct 3-D shape. The cell recognizes that the protein isn't the right shape and disposes of it.
The most common mutation, deletion of phenylalanine 508 (ΔF508), impairs CFTR folding and, consequently, its biosynthetic and endocytic processing as well as ... |
Over 1500 unique mutations have been identified in the CFTR gene (2). The most common allele, p.F508del, has a frequency of over 66% in Caucasians (3). Other ... |
The majority of CF patients express at least one allele that bears the F508del mutation, which causes a processing defect that impairs folding, trafficking, ... |
Our findings show that the F508del mutation in CFTR impacts trabecular bone mass by reducing bone formation. |
The F508del-CFTR mutation exhibits multiple molecular defects, including defective cell processing, reduced stability at the cell surface and diminished channel ... |
29 авг. 2024 г. · This research explores a novel approach to correct the malfunctioning CFTR protein by introducing revertant mutations (RMs) through CRISPR base ... |
The F508del defect prevents the CFTR from assembling correctly within the cell or causes it to be fragile, which means that it does not transport chloride ... |
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