• Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). (cdc.gov)
  • However, qRT-PCR studies demonstrated apparently normal GALT mRNA levels in lymphoblasts, and Gal-1P values measured in the child following galactose exposure in infancy and at 1 year were normal. (cdc.gov)
  • Balakrishnan B, Chen W, Tang M, Huang X, Cakici DD, Siddiqi A, Berry G, Lai K. Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts. (harvard.edu)
  • However, despite the early diagnosis and dietary treatment, the patients with classical galactosemia showed one or more long-term complications.A total of 18 different variations in the GALT gene were found in the patient cohort: 12 missense, 2 frameshift, 1 nonsense, 1 deletion, 1 silent variation, and 1 intronic. (elsevier.com)
  • The prevalence of the most common galactose-I-phosphate uridyl transferase gene mutations, Q188R and N314D, was assessed in 206 women with ovarian cancer, 78 women with endometriosis and 248 controls. (nih.gov)
  • The predicted O-acetyl transferase protein encoded by this gene was found to consist of 333 amino acids, (37,185 daltons) and to have some similarity with the galactose-1-phosphate uridylyltransferase protein of Escherichia coli. (nih.gov)
  • The gene cluster of B. longum NCC2705 consists of the open reading frames BL1638 to BL1644 (Fig. 1 ). (asm.org)
  • We previously revealed that AgsB is a major α-1,3-glucan synthase in vegetative hyphae, but the function of AgsA remained unknown because of its low expression level and lack of phenotypic alteration upon gene disruption. (frontiersin.org)
  • To clarify the role of α-1,3-glucan in hyphal aggregation, we constructed strains overexpressing agsA ( agsA OE ) or agsB ( agsB OE ), in which the other α-1,3-glucan synthase gene was disrupted. (frontiersin.org)
  • We also constructed a strain with disruption of the amyG gene, which encodes an intracellular α-amylase that synthesizes α-1,4-glucooligosaccharide as a primer for α-1,3-glucan biosynthesis. (frontiersin.org)
  • Plants contain several hundred genes coding for GTs, for example, 565 for Arabidopsis thaliana as of August 2017 1 . (frontiersin.org)
  • The detection of a substantial decrease of galactose-1-phosphate uridyl transferase activity in patients with presenile cataract evidences the disturbance of galactose metabolism these patients and allows to accept this genetic defect as the causes of opacification of the lens. (unboundmedicine.com)
  • Amylopectin molecules, on the other hand, are much larger (up to millions of residues) and highly branched with a high frequency of α -1,6-glycosidic linkages [ 2 ]. (hindawi.com)
  • 1991 Jan;5(1):71-5. (nih.gov)
  • A1 - Ciszewska,G, PY - 1991/9/1/pubmed PY - 1991/9/1/medline PY - 1991/9/1/entrez SP - 244 EP - 6 JF - Klinika oczna JO - Klin Oczna VL - 93 IS - 9 N2 - In connection with the increased incidence of cataract in middle-aged patients investigations were carried out in order to clear up one of the possible causes of this condition. (unboundmedicine.com)
  • In this strain, the hyphal pellets and peak molecular mass of α-1,3-glucan (94.5 ± 1.4 kDa) were smaller than in the wild-type strain, and α-1,3-glucan was still labeled with AGBD-GFP in the outermost layer. (frontiersin.org)
  • Currently, a fully complete genome sequence is available only for the O. oeni PSU-1 strain [ 4 ]. (royalsocietypublishing.org)
  • We analyzed the chemical properties of cell wall α-1,3-glucan from the agsA OE and agsB OE strains. (frontiersin.org)
  • We also analyzed localization of α-1,3-glucan in the cell wall of the two strains by fluorescent labeling with α-1,3-glucan-binding domain - fused GFP (AGBD-GFP). (frontiersin.org)
  • Table 1 lists the characteristics of five fully sequenced strains (S2, C5, C6, C7 and X1). (pubmedcentralcanada.ca)
  • α-1,3-Glucan of the agsB OE cells was clearly located in the outermost layer, whereas weak labeling was detected in the agsA OE cells. (frontiersin.org)
  • However, the agsA OE cells treated with β-1,3-glucanase were clearly labeled with AGBD-GFP. (frontiersin.org)
  • Cyclotella cryptica (Fig. 1 ), a brackish water diatom isolated from Martha's Vineyard, Massachusetts, was identified in the ASP as a top species for large-scale biofuel production. (biomedcentral.com)
  • α-1,3-Glucan is one of the main polysaccharides in the cell wall of filamentous fungi. (frontiersin.org)