Article
Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations.
PloS one - 1 Jan 2012
Lopez-Rodriguez Angelica, Holmgren Miguel
Abstract excerpt
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...
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