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Study found no statistically significant difference in the occurrence of the GALT gene mutation between Indian patients with idiopathic presenile cataract and controls.
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GALT mutation is associated with galactosemia.
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The mutational spectrum of the GALT gene in Greek galactosemia patients is presented for the first time.
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novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
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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
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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
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A novel noncoding homozygous GALT variant associated with asymptomatic galactosemia has been described in an infant of consanguineous heterozygous parents.
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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.
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GALT activity in red blood cells of patients with galactosaemia
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Novel missense mutations identified in Italian galactosemic patients.
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In Korean population, novel GALT mutations were identified in the galactosemia patients different from those of other populations.
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suggests that GALT mutations are ethnic-specific and that galactosemia is a heterogeneous disorder at the molecular level
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In this report, we present GALT gene mutations in 56 cases of galactosemia from Turkey identified using DNA microarray resequencing.
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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).
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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.
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The study determined the frequency of the two most common GALT mutations and their variants in Indian galactosemia patients.
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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.
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Forty four novel variations in the GALT gene were identified, among them 27 nucleotide substitutions, in the French cohort of galactosemic patients.
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Mutations of the galactose-1-phosphate uridyltranseferase gene is associated with galactosemia.
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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
