ABCC8 p.Gln279Glu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 15223052
[PubMed]
Bernier V et al: "Pharmacological chaperones: potential treatment for conformational diseases."
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.
X
ABCC8 p.Gln279Glu 15223052:84:40
status: NEW