| Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. | Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C., Free PMC Article | 01/12/2024 |
| Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. | Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
Stettner NM, Cutler DJ, Fridovich-Keil JL., Free PMC Article | 04/29/2023 |
| A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. | A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL., Free PMC Article | 11/19/2022 |
| Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions. | Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions.
Verdino A, D'Urso G, Tammone C, Scafuri B, Marabotti A., Free PMC Article | 12/25/2021 |
| A founder noncoding GALT variant interfering with splicing causes galactosemia. | A founder noncoding GALT variant interfering with splicing causes galactosemia.
Latchman K, Brown J, Sineni CJ, Ragin-Dames L, Guo S, Huang J, Thorson W, Hacker S, Barbouth D, Tekin M, Bademci G. | 10/9/2021 |
| Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK. | Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK.
Oh SL, Cheng LY, J Zhou JF, Henke W, Hagen T. | 08/28/2021 |
| Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants. | Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
Ohlsson A, Hunt M, Wedell A, von Döbeln U. | 09/19/2020 |
| Biallelic pathogenic variants in the GALT gene are associated with galactosemia. | Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Teke Kisa P, Kose M, Unal O, Er E, Hismi BO, Bulbul FS, Kose E, Gunduz M, Canda E, Kucukcongar A, Arslan N. | 12/28/2019 |
| This review summarizes the current knowledge of galactosemia, in particular the putative mechanisms of neonatal and long-term complications and the molecular genetics of GALT deficiency. | Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.
Viggiano E, Marabotti A, Politano L, Burlina A. | 08/3/2019 |
| Although all individuals in this study showed markedly reduced RBC GALT activity, we observed significant differences in RBC GAL1P concentrations among galactosemia genotypes. | Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M. | 06/22/2019 |
| Study found no statistically significant difference in the occurrence of the GALT gene mutation between Indian patients with idiopathic presenile cataract and controls. | Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.
Nema N, Kumar R, Verma A, Verma S, Chaturvedi K. | 01/26/2019 |
| GALT mutation is associated with galactosemia. | Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
Ramadža DP, Sarnavka V, Vuković J, Fumić K, Krželj V, Lozić B, Pušeljić S, Pereira H, Silva MJ, Tavares de Almeida I, Barić I, Rivera I. | 08/18/2018 |
| The mutational spectrum of the GALT gene in Greek galactosemia patients is presented for the first time. | Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Schulpis KH, Thodi G, Iakovou K, Chatzidaki M, Dotsikas Y, Molou E, Triantafylli O, Loukas YL. | 06/30/2018 |
| novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family | A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
De Lucca M, Barba C, Casique L. | 01/13/2018 |
| 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 | Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Narravula A, Garber KB, Askree SH, Hegde M, Hall PL. | 12/9/2017 |
| 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 | Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ, Kopec J, Pey AL, Fitzpatrick F, Patel D, Chalk R, Shrestha L, Yue WW., Free PMC Article | 09/30/2017 |
| A novel noncoding homozygous GALT variant associated with asymptomatic galactosemia has been described in an infant of consanguineous heterozygous parents. | Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Liu Y, Sidhu A, Bean LH, Conway RL, Fridovich-Keil JL., Free PMC Article | 02/27/2016 |
| 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. | Functional correction by antisense therapy of a splicing mutation in the GALT gene.
Coelho AI, Lourenço S, Trabuco M, Silva MJ, Oliveira A, Gaspar A, Diogo L, Tavares de Almeida I, Vicente JB, Rivera I., Free PMC Article | 12/19/2015 |
| GALT activity in red blood cells of patients with galactosaemia | Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Schadewaldt P, Kamalanathan L, Hammen HW, Kotzka J, Wendel U. | 06/27/2015 |
| Novel missense mutations identified in Italian galactosemic patients. | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E, Marabotti A, Burlina AP, Cazzorla C, D'Apice MR, Giordano L, Fasan I, Novelli G, Facchiano A, Burlina AB. | 04/11/2015 |
| In Korean population, novel GALT mutations were identified in the galactosemia patients different from those of other populations. | Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
Choi R, Jo KI, Ko DH, Lee DH, Song J, Jin DK, Ki CS, Lee SY, Kim JW, Lee YW, Park HD., Free PMC Article | 11/8/2014 |
| suggests that GALT mutations are ethnic-specific and that galactosemia is a heterogeneous disorder at the molecular level | Mutational analysis of the GALT gene in Filipino patients.
Estrada SC, Canson DM, Silao CL. | 06/28/2014 |
| In this report, we present GALT gene mutations in 56 cases of galactosemia from Turkey identified using DNA microarray resequencing. | Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Özgül RK, Güzel-Ozantürk A, Dündar H, Yücel-Yılmaz D, Coşkun T, Sivri S, Aydoǧdu S, Tokatlı A, Dursun A. | 04/26/2014 |
| 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). | Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL., Free PMC Article | 10/19/2013 |
| 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. | Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ., Free PMC Article | 09/21/2013 |