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Hereditary galactosemia.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Demirbas D, et al. Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31. Metabolism. 2018. PMID: 29409891 Review.
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The de …
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokin …
The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I, Achim AC, Cozma-Petruț A. Badiu Tișa I, et al. Nutrients. 2022 Dec 20;15(1):10. doi: 10.3390/nu15010010. Nutrients. 2022. PMID: 36615667 Free PMC article. Review.
All the foods that contain galactose should be eliminated from the diet when there is a suspicion of galactosemia. The neonatal screening for galactosemia can urge early diagnosis and intervention, preventing complications. All galactosemia types may be detec …
All the foods that contain galactose should be eliminated from the diet when there is a suspicion of galactosemia. The neonatal scree …
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.
UDP-sugar 4-epimerase (GalE) belongs to the short-chain dehydrogenase/reductase (SDR) superfamily of proteins and is one of enzymes in the Leloir pathway. They have been shown to be important virulence factors in a number of Gram-negative pathogens and to be involved in th …
UDP-sugar 4-epimerase (GalE) belongs to the short-chain dehydrogenase/reductase (SDR) superfamily of proteins and is one of enzymes i …
Drosophila melanogaster Models of Galactosemia.
Daenzer JM, Fridovich-Keil JL. Daenzer JM, et al. Curr Top Dev Biol. 2017;121:377-395. doi: 10.1016/bs.ctdb.2016.07.009. Epub 2016 Aug 3. Curr Top Dev Biol. 2017. PMID: 28057307 Free PMC article. Review.
Type II galactosemia results from profound deficiency of galactokinase, the first enzyme in the Leloir pathway. Type III galactosemia results from partial deficiency of UDP galactose 4'-epimerase, the third enzyme in the Leloir pathway. . …
Type II galactosemia results from profound deficiency of galactokinase, the first enzyme in the Leloir pathway. Type III galactose …
Recent advances in inherited platelet disorders.
Pluthero FG, Kahr WHA. Pluthero FG, et al. Curr Opin Hematol. 2019 Sep;26(5):313-319. doi: 10.1097/MOH.0000000000000525. Curr Opin Hematol. 2019. PMID: 31348050 Review.
RECENT FINDINGS: Novel genes recently implicated in human platelet dysfunction include the galactose metabolism enzyme UDP-galactose-4-epimerase in macrothrombocytopenia, and erythropoietin-producing hepatoma-amplified sequence receptor transmembrane t …
RECENT FINDINGS: Novel genes recently implicated in human platelet dysfunction include the galactose metabolism enzyme UDP-galacto …
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.
However, how mammalian cells regulate NS levels and pathway flux remains largely uncharacterized. To address this knowledge gap, here we examined UDP-galactose 4'-epimerase (GALE), which interconverts two pairs of essential NSs. ...Our results r …
However, how mammalian cells regulate NS levels and pathway flux remains largely uncharacterized. To address this knowledge gap, here we exa …
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.
GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine. ...What is the context? GALE …
GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional …
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.
GALE encodes UDP-galactose-4-epimerase, an enzyme of galactose metabolism and glycosylation responsible for two reversible reactions: interconversion of UDP-galactose with UDP-glucose and interconversion of UDP-N-acetylgalactosamine with UDP-N-a …
GALE encodes UDP-galactose-4-epimerase, an enzyme of galactose metabolism and glycosylation responsible f …
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.
Glycosylation is recognized as a key process for proper megakaryopoiesis and platelet formation. The enzyme uridine diphosphate (UDP)-galactose-4-epimerase, encoded by GALE, is involved in galactose metabolism and protein glycosylation. ...Plate …
Glycosylation is recognized as a key process for proper megakaryopoiesis and platelet formation. The enzyme uridine diphosphate (UDP) …
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B. Soriano-Sexto A, et al. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
This paper reports the use of a personalized multi-omics (metabolomic, genomic and transcriptomic) pipeline plus functional genomics to aid in the genetic diagnosis of six unsolved cases, with a clinical and/or biochemical diagnosis of galactosemia, mucopolysaccharidosis t …
This paper reports the use of a personalized multi-omics (metabolomic, genomic and transcriptomic) pipeline plus functional genomics to aid …
37 results