Cell Press, Chemistry and Biology, 3(14), p. 241-242, 2007
DOI: 10.1016/j.chembiol.2007.03.004
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Genetic conformational diseases are often caused by modest mutations in proteins that lead to unnecessary recognition of the mutant protein by the endoplasmic reticulum (ER) quality control system as misfolded. These mutations classically occur outside of the predicted functional domain of the affected proteins such that interventions to allow their release from the quality control system and their targeting to their proper site of action could restore function [2]. Classic examples of such diseases include cystic fibrosis, nephrogenic diabetes insipidus, hypogonadotropic hypogonadism, and various lysosomal storage disorders such as GM2 gangliosidosis, Fabry, Gaucher, and Morquio B diseases.