Description of F508del Mutation
Cystic fibrosis transmembrane conductance regulator (CFTR) with the F508del mutation presents a deletion of three base pairs, involving the loss of an amino acid, phenylalanine, at position 508 . This results in a threefold problem that leads to loss of chloride channel function.
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 ... |
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, ... |
The F508del-CFTR mutation exhibits multiple molecular defects, including defective cell processing, reduced stability at the cell surface and diminished channel ... |
Our findings show that the F508del mutation in CFTR impacts trabecular bone mass by reducing bone formation. |
29 авг. 2024 г. · F508del mutation, a trinucleotide deletion, is the most frequent cause of CF affecting approximately 80% of patients. Even though current ... |
In the context of Neuroscience, ΔF508 refers to a mutation in the CFTR protein that affects its trafficking to the membrane, leading to reduced functionality ... |
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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