Ontology highlight
ABSTRACT:
SUBMITTER: Lopez-Rodriguez A
PROVIDER: S-EPMC3474720 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
PloS one 20121017 10
A common phenotype for many genetic diseases is that the cell is unable to deliver full-length membrane proteins to the cell surface. For some forms of autism, hereditary spherocytosis and color blindness, the culprits are single point mutations to cysteine. We have studied two inheritable cysteine mutants of cyclic nucleotide-gated channels that produce achromatopsia, a common form of severe color blindness. By taking advantage of the reactivity of cysteine's sulfhydryl group, we modified these ...[more]