ABCC8 p.Gln279Glu
| Predicted by SNAP2: | A: N (87%), C: N (61%), D: N (87%), E: N (93%), F: N (57%), G: N (78%), H: N (93%), I: N (82%), K: N (97%), L: N (82%), M: N (87%), N: N (93%), P: N (78%), R: N (93%), S: N (93%), T: N (93%), V: N (82%), W: N (66%), Y: N (72%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: N, N: N, P: N, R: N, S: N, T: N, V: N, W: D, Y: D, |
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[hide] Pharmacological chaperones: potential treatment fo... Trends Endocrinol Metab. 2004 Jul;15(5):222-8. Bernier V, Lagace M, Bichet DG, Bouvier M
Pharmacological chaperones: potential treatment for conformational diseases.
Trends Endocrinol Metab. 2004 Jul;15(5):222-8., [PMID:15223052]
Abstract [show]
Increasing numbers of inherited diseases are found to result from mutations that lead to misfolded proteins. In many cases, the changes in conformation are relatively modest and the function of the protein would not be predicted to be affected. Yet, these proteins are recognized as "misfolded" and degraded prematurely. Recently, small molecules known as chemical and pharmacological chaperones were found to stabilize such mutant proteins and facilitate their trafficking to their site of action. Here, we review the recent published evidence suggesting that pharmacological chaperones represent promising avenues for the treatment of endocrine and metabolic diseases such as hyperinsulinemic hypoglycemia, hypogonadotropic hypogonadism and nephrogenic diabetes insipidus, and might become a general therapeutic strategy for the treatment of conformational diseases.
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No. Sentence Comment
84 While studying two mutations, R301Q and Q279E, shown to produce an a-Gal A retained in the ER [28], Fan et al. found that treatment with the a-Gal A inhibitor, 1-deoxy-galactonojirimycin (DGJ), enhanced the activity of the enzyme detected in Fabry patient`s lymphoblasts as a result of increased maturation and lysosomal targeting.
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ABCC8 p.Gln279Glu 15223052:84:40
status: NEW