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Understanding the residue-dependent effects of disease-phenotypic mutations in multi-spanning membrane proteins is an essential step toward the development of corrective therapies. As a systematic approach to further elucidate mutant-dependent mis-folding consequences, we prepared two libraries: one consisting of 20 helix-loop-helix (“hairpin”) constructs derived from helices 3 and 4 of the human...
Developing a greater understanding of the function of the translocon–and the source of its selectivity for transmembrane helix insertion–are important steps toward deciphering the role of disease-causing mutations in membrane regions. To address these phenomena, we have prepared a library of helix–loop–helix (“hairpin”) constructs derived from helices 3 and 4 of the first membrane domain of CFTR,...
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