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Keywords: mutations
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Biosci Rep (2022) 42 (7): BSR20212006.
Published: 01 July 2022
...Carlos M. Farinha; Isabelle Callebaut Cystic fibrosis, the most common autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene, which encodes a cAMP-activated chloride and bicarbonate channel that regulates ion...
Biosci Rep (2015) 35 (3): e00205.
Published: 12 June 2015
... structure of HKII. However, the amino acid(s) responsible for HKII binding to VDAC are not known. Therefore, a series of truncations and point mutations were made to the N-terminal end of HKII to identify the binding site to VDAC. Deletions of the first 10 and 20 amino acids indicated that important amino...