| GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. | GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A, Di Buduo CA, Benito R, Balduini A, Rivera J, Bastida JM. | 03/9/2023 |
| Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. | Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-García C, Santos-Mínguez S, Serramito-Gómez I, Ruiz-Sala P, Peñarrubia MJ, Pardal E, Hernández-Rivas JM, González-Porras JR, García-Tuñón I, Benito R, Rivera J, Balduini A, Bastida JM., Free PMC Article | 02/4/2023 |
| Expansion of the clinical phenotype of GALE deficiency. | Expansion of the clinical phenotype of GALE deficiency.
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. | 01/22/2022 |
| Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function. | Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function.
Broussard A, Florwick A, Desbiens C, Nischan N, Robertson C, Guan Z, Kohler JJ, Wells L, Boyce M., Free PMC Article | 09/19/2020 |
| High GALE expression is associated with differentiation Grade of Gastric Cancer. | Overexpression of UDP-Glucose 4-Epimerase Is Associated with Differentiation Grade of Gastric Cancer.
de Souza MFD, da Silva Filho AF, de Barros Albuquerque AP, Quirino MWL, de Souza Albuquerque MS, Cordeiro MF, Martins MR, da Rocha Pitta I, Lucena-Araujo AR, da Rocha Pitta MG, de Melo Rêgo MJB., Free PMC Article | 05/2/2020 |
| we have identified GALE p.R51W, a homozygous mutation in an extended kindred including multiple individuals presenting with severe thrombocytopenia and intracranial bleeding. GALE p.R51W has reduced enzymatic activity and is thermally unstable. | Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Seo A, Gulsuner S, Pierce S, Ben-Harosh M, Shalev H, Walsh T, Krasnov T, Dgany O, Doulatov S, Tamary H, Shimamura A, King MC., Free PMC Article | 06/15/2019 |
| Mutation in UDP-galactose-4'-epimerase gene is associated with UDP-galactose-4'-epimerase deficiency. | A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
Tong F, Yang R, Hong F, Qian G, Jiang P, Gao R. | 12/17/2016 |
| Data show the protein structure of GALE and its substrate binding and specificity. It is mutated in type III galactosemia. [review] | UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.
Beerens K, Soetaert W, Desmet T. | 07/2/2016 |
| human UDP-galactose 4'-epimerase stability is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding | The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
Pey AL, Padín-Gonzalez E, Mesa-Torres N, Timson DJ. | 02/28/2015 |
| These data indicated a critical role of GALE in maintaining cartilage homeostasis, and suggested that GALE inhibition might contribute to OA progress. | The critical role of UDP-galactose-4-epimerase in osteoarthritis: modulating proteoglycans synthesis of the articular chondrocytes.
Wen Y, Qin J, Deng Y, Wang H, Magdalou J, Chen L. | 12/6/2014 |
| GALE variants can be arranged into three groups depending on the severity of enzyme impairment. | In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ, Timson DJ. | 08/10/2013 |
| P.K161N-hGALE causes its effects by abolishing an important interaction between the protein and the cofactor. | Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
McCorvie TJ, Liu Y, Frazer A, Gleason TJ, Fridovich-Keil JL, Timson DJ., Free PMC Article | 01/26/2013 |
| Our observations show that altered protein stability is due to misfolding and that loss or reduction of enzyme activity is responsible for the molecular defects underlying GALE-deficiency galactosemia. | Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Bang YL, Nguyen TT, Trinh TT, Kim YJ, Song J, Song YH. | 01/21/2010 |
| Subtle biochemical and metabolic abnormalities detected in patients expressing these GALE alleles likely reflect, at least in part, the reduced enzymatic activity of the encoded GALE proteins. | Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.
Chhay JS, Vargas CA, McCorvie TJ, Fridovich-Keil JL, Timson DJ. | 01/21/2010 |
| study of hGALE crystal structure and demonstration that residue 307 acts as a gatekeeper mediating substrate access to the hGALE active site | Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.
Schulz JM, Watson AL, Sanders R, Ross KL, Thoden JB, Holden HM, Fridovich-Keil JL. | 01/21/2010 |
| Data suggest that reduced catalytic efficiency and increased proteolytic susceptibility of UDP-galactose 4-epimerase are causative factors in type III galactosemia. | Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
Timson DJ, Timson DJ. | 01/21/2010 |
| Resulst describe the relationship among UDP-galactose 4'-epimerase activity, substrate specificity, metabolic balance, and galactose sensitivity in mammalian cells. | Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.
Schulz JM, Ross KL, Malmstrom K, Krieger M, Fridovich-Keil JL. | 01/21/2010 |
| Disease-causing mutations result in a variety of changes to the steady-state parameters. Mostly these are changes in turnover number, kcat. The ability to dimerize is not affected, but some mutants have increased sensitivity to protease digestion. | Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
Timson DJ, Timson DJ. | 11/28/2005 |