Recombinant Human Galactose-1-phosphate uridylyltransferase (GALT)

1. GALT mutation is associated with galactosemia. PMID: 29252199
2. The mutational spectrum of the GALT gene in Greek galactosemia patients is presented for the first time. PMID: 28644047
3. novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family PMID: 28450132
4. 17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain PMID: 27308838
5. we present the 1.9 A resolution crystal structure of human GALT (hGALT) ternary complex, revealing a homodimer arrangement that contains a covalent uridylylated intermediate and glucose-1-phosphate in the active site, as well as a structural zinc-binding site, per monomer PMID: 27005423
6. A novel noncoding homozygous GALT variant associated with asymptomatic galactosemia has been described in an infant of consanguineous heterozygous parents. PMID: 25920691
7. Mutation activates a cryptic donor splice site, inducing an aberrant splicing of the GALT pre-mRNA, which in turn leads to a frameshift with inclusion of a premature stop codon. PMID: 25052314
8. GALT activity in red blood cells of patients with galactosaemia PMID: 25268296
9. Novel missense mutations identified in Italian galactosemic patients. PMID: 25592817
10. In Korean population, novel GALT mutations were identified in the galactosemia patients different from those of other populations. PMID: 25124065
11. suggests that GALT mutations are ethnic-specific and that galactosemia is a heterogeneous disorder at the molecular level PMID: 24045215
12. In this report, we present GALT gene mutations in 56 cases of galactosemia from Turkey identified using DNA microarray resequencing. PMID: 23924834
13. Data suggest that in classic galactosemia residual GALT activity (predicted from activity of recombinant GALT matching patient's mutation) correlates with reduced ovarian reserve (as indicted by biological marker, circulating anti-Mullerian hormone). PMID: 23690308
14. HGALT requires a level of flexibility to function optimally and that altered folding is the underlying reason of impairment in all the variants tested here. PMID: 23583749
15. The study determined the frequency of the two most common GALT mutations and their variants in Indian galactosemia patients. PMID: 22798028
16. The novel GALT gene mutations included 6 missense mutations viz. Y89H, Q103R, P166A, S181F, K285R, R333L; one nonsense mutation, S307X and 3 silent mutations--Q103Q, K210K and H319H. PMID: 23022339
17. Forty four novel variations in the GALT gene were identified, among them 27 nucleotide substitutions, in the French cohort of galactosemic patients. PMID: 22944367
18. Mutations of the galactose-1-phosphate uridyltranseferase gene is associated with galactosemia. PMID: 22963887
19. Duarte1 (D1) and D2 genotypes of GALT do not appear to play a role in the association between galactose intake, possible ovarian dysfunction, and the link with ovarian cancer PMID: 22749219
20. 3 different GALT mutations viz. Q188R, N314D and S307X were found to be present in the family of a neonate diagnosed with galactosemia and having the heterozygote genotype Q188R/S307X. S307X is a novel GALT mutation linked to galactosemia. PMID: 21188552
21. Results suggest that classical galactosaemia shows low allelic heterogeneity in Mexican patients. PMID: 18956253
22. Congenital eye abnormalities and galactosemia were found in a family with Q188R and G1391A mutations. PMID: 20222886
23. GALT deletion mutation carrier frequency was 1 in 127 (0.79%). PMID: 21059483
24. live birth incidence of classical galactosemia in Estonia is 1:19.700 PMID: 20151200
25. The simulated point mutations have a direct effect on the active site, or on the dimer assembly and stability, or on the monomer stability. PMID: 20008339
26. no effect seen of N314D GALT genotype on risk of borderline or invasive ovarian cancer PMID: 11936817
27. Data found no association between congenital absence of the uterus and vagina (CAUV) and the N314D allele of the galactose-1-phosphate uridyl transferase (GALT) gene. PMID: 12606594
28. Increased expression of Galactosyltransferase is associated with ovarian cancer PMID: 12851678
29. association of decreased galactose-1-phosphate uridyltransferase activity with idiopathic presenile cataract PMID: 14707519
30. children and adolescents with galactosemia function generally within the low average IQ range and have less well-developed executive functions. PMID: 15506833
31. No statistically significant differences were observed in the allele frequencies between the infertile women and control groups for GALT PMID: 15749517
32. Nine novel mutations in the GALT gene associated with Classical galctosemia are described. PMID: 15841485
33. No association of GALT mutations is found in 86 patients with idiopathic premature ovarian failure. PMID: 16009197
34. We postulate that molecular link between defective GALT enzyme, which result in classic galactosemia and the cerebroside galactosyl transferase, responsible for galactosylation of cerebrosides, is dependent on concentrations of UDP-galactose. PMID: 16125333
35. no relationship was found between ovarian failure and GALT polymorphisms in Indian women PMID: 16274605
36. no significant differences between women carrying at least one N314D or Q188R GALT allele and controls in IVF outcomes measured: numbers of follicles and oocytes obtained; fertilization rates and percentage of Grade A embryos; and pregnancy rates. PMID: 16595241
37. analysis of classical galactosaemia mutations in GALT1 in Spain and Portugal PMID: 17041746
38. analysis of a patient with galactose-1-phosphate uridyltransferase mutations p.Q188R and p.R333W and galactose metabolite levels during breast-feeding [case report] PMID: 17143577
39. Identified novel mutations in GALT gene using DNA testing. PMID: 17876724
40. The R204X mutation severely compromises both expression and function of human GALT;T268N is one of a very small number of naturally occurring rare but neutral missense polymorphisms in human GALT. PMID: 18210213
41. Synergistic effect of GALT and lactase mutations on cataract formation. PMID: 18454942
42. 4 bp 5' deletion in GALT is a causal mutation in Duarte galactosemia. PMID: 19224951
43. Galactose-1-phosphate uridyl transferase deficiency is not associated with Mullerian aplasia in Dutch patients PMID: 19646668

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HGNC: 4135

OMIM: 230400

KEGG: hsa:2592

STRING: 9606.ENSP00000368119

UniGene: Hs.522090