EC Number   |
Application |
Reference |
|---|
    2.7.7.12 | diagnostics |
the enzyme activity is measured for determination of galactosaemia using erythrocyte from blood samples, HPLC-based method development, overview |
722074 |
| 2.7.7.12 | drug development |
Escherichia coli outer membrane vesicles can display the immune protective antigen galactose-1-phosphate uridyltransferase (GalT) of Actinobacillus pleuropneumoniae and confer protection against Actinobacillus pleuropneumoniae virulent strain L20. Outer membrane vesicles can be used as a platform to deliver GalT protein and enhance its immunogenicity to induce both humoral and cellular immune responses in mice |
-, 761685 |
| 2.7.7.12 | drug development |
the enzyme might be a target for inhibitor design in galactosemia treatment |
722427 |
| 2.7.7.12 | medicine |
characterization of a large deletion spanning 8489 bp in the GALT gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia. The deletion eliminates all GALT exons as well as the non-translated sequences of the adjacent interleukin 11 receptor IL11RA gene. It is flanked by a 6 bp block of homologous sequence on either side. Patients homozygous for the deletion show a lack of IL11RA transcripts |
738945 |
| 2.7.7.12 | medicine |
identification of six likely pathogenic variations including three missense (Ala101Asp, Tyr165His, and Pro257Thr), one small deletion/insertion [c.826_827delinsAA (Ala276Asn)], one frameshift (Asn96Serfs*5), and one splicing (c.378-1G > C) in patients with classic galactosemia. The most frequent variation is the Duarte variant (c.940A > G, 35.3%), followed by c.507G > C (p.Gln169His, 9.6%), among 34 Korean patients |
737939 |
| 2.7.7.12 | medicine |
not all pathogenic GALT mutations are inherited and GALT may have a higher new mutation rate than previously believed. The variant Q188P is found in the compound heterozygous state in a child with classic galactosemia, but not in either of her parents. The patient inherited a common Q188R GALT mutation from the mother |
738946 |
| 2.7.7.12 | medicine |
Q188R, the most commonly detected disease-associated variant, increases the rate of aggregation in the absence of zinc likely due to its reduced ability to form the uridylylated intermediate |
738352 |
