Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations.

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...

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Bibliographic Details
Main Authors: Angelica Lopez-Rodriguez, Miguel Holmgren
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3474720?pdf=render