PMID: 15223052

Bernier V, Lagace M, Bichet DG, Bouvier M
Pharmacological chaperones: potential treatment for conformational diseases.
Trends Endocrinol Metab. 2004 Jul;15(5):222-8., [PubMed]
Sentences
No. Mutations Sentence Comment
84 ABCC8 p.Gln279Glu
X
ABCC8 p.Gln279Glu 15223052:84:40
status: NEW
view ABCC8 p.Gln279Glu details
 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. Login to comment 86 ABCC8 p.Gly328Arg
X
ABCC8 p.Gly328Arg 15223052:86:127
status: NEW
view ABCC8 p.Gly328Arg details
 Using a different inhibitor, Frustaci et al. showed that treatment of a patient harboring another ER-retained form of a-Gal A (G328R) with galactose for three days significantly increased a-Gal A activity detected in lymphocytes isolated from coronary-sinus blood [30]. Login to comment