PubMed (GeneRIF) for id: 2582

Year	Number of Results
2004	1
2005	2
2008	1
2009	1
2012	1
2013	1
2014	2
2015	1
2016	1
2019	3
2020	1
2021	1
2023	2
2024	0

1

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. Marín-Quílez A, et al. Platelets. 2023 Dec;34(1):2176699. doi: 10.1080/09537104.2023.2176699. Epub 2023 Feb 27. Platelets. 2023. PMID: 36846897 Free article.

2

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. Marín-Quílez A, et al. Blood. 2023 Jan 26;141(4):406-421. doi: 10.1182/blood.2022016995. Blood. 2023. PMID: 36395340 Free PMC article.

3

Expansion of the clinical phenotype of GALE deficiency.

Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Markovitz R, et al. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. Am J Med Genet A. 2021. PMID: 34159722

4

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. de Souza MFD, et al. Dis Markers. 2019 Nov 20;2019:6325326. doi: 10.1155/2019/6325326. eCollection 2019. Dis Markers. 2019. PMID: 31827638 Free PMC article.

5

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. Broussard A, et al. J Biol Chem. 2020 Jan 31;295(5):1225-1239. doi: 10.1074/jbc.RA119.009271. Epub 2019 Dec 9. J Biol Chem. 2020. PMID: 31819007 Free PMC article.

6

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. Seo A, et al. Hum Mol Genet. 2019 Jan 1;28(1):133-142. doi: 10.1093/hmg/ddy334. Hum Mol Genet. 2019. PMID: 30247636 Free PMC article.

7

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. Tong F, et al. J Pediatr Endocrinol Metab. 2016 Mar;29(3):379-83. doi: 10.1515/jpem-2014-0462. J Pediatr Endocrinol Metab. 2016. PMID: 26565537

8

UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.

Beerens K, Soetaert W, Desmet T. Beerens K, et al. Carbohydr Res. 2015 Sep 23;414:8-14. doi: 10.1016/j.carres.2015.06.006. Epub 2015 Jun 21. Carbohydr Res. 2015. PMID: 26162744 Review.

9

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. Wen Y, et al. Biochem Biophys Res Commun. 2014 Oct 3;452(4):906-11. doi: 10.1016/j.bbrc.2014.08.148. Epub 2014 Sep 6. Biochem Biophys Res Commun. 2014. PMID: 25201731

10

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. Pey AL, et al. Arch Biochem Biophys. 2014 Nov 15;562:103-14. doi: 10.1016/j.abb.2014.07.030. Epub 2014 Aug 19. Arch Biochem Biophys. 2014. PMID: 25150110

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