| Colorectal cancer with low SLC35A3 is associated with immune infiltrates and poor prognosis. | Colorectal cancer with low SLC35A3 is associated with immune infiltrates and poor prognosis.
Lu S, Sun X, Tang H, Yu J, Wang B, Xiao R, Qu J, Sun F, Deng Z, Li C, Yang P, Yang Z, Rao B., Free PMC Article | 01/10/2024 |
| Identification of HIF-dependent alternative splicing in gastrointestinal cancers and characterization of a long, coding isoform of SLC35A3. | Identification of HIF-dependent alternative splicing in gastrointestinal cancers and characterization of a long, coding isoform of SLC35A3.
Markolin P, Davidson N, Hirt CK, Chabbert CD, Zamboni N, Schwank G, Krek W, Rätsch G. | 02/26/2022 |
| Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. | Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W, Dubail J, Lounis-Ouaras S, Prada P, Bennani R, Roseau C, Huber C, Afenjar A, Colin E, Vuillaumier-Barrot S, Seta N, Foulquier F, Poüs C, Cormier-Daire V, Bruneel A. | 10/9/2021 |
| Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3. | Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3.
Szulc B, Sosicka P, Maszczak-Seneczko D, Skurska E, Shauchuk A, Olczak T, Freeze HH, Olczak M., Free PMC Article | 03/13/2021 |
| SLC35A3 missense homozygous mutation is associated with skeletal dysplasia. | A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. | 02/10/2018 |
| Recessive mutations in SLC35A3 caused early onset epileptic encephalopathy with skeletal defects in two siblings in an Italian non-consanguineous family. | Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
Marini C, Hardies K, Pisano T, May P, Weckhuysen S, Cellini E, Suls A, Mei D, Balling R, Jonghe PD, Helbig I, Garozzo D, EuroEPINOMICS consortium AR working group, Guerrini R. | 11/4/2017 |
| UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats). | UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats).
Maszczak-Seneczko D, Sosicka P, Kaczmarek B, Majkowski M, Luzarowski M, Olczak T, Olczak M., Free PMC Article | 02/27/2016 |
| Identified deleterious mutations in SLC35A3 in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy. | Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O. | 07/19/2014 |
| The data further supports the hypothesis that UGT and NGT cooperate in the UDP-Gal delivery for glycosyltransferases located in the Golgi apparatus. | UDP-Gal/UDP-GlcNAc chimeric transporter complements mutation defect in mammalian cells deficient in UDP-Gal transporter.
Olczak M, Maszczak-Seneczko D, Sosicka P, Jakimowicz P, Olczak T. | 08/31/2013 |
| A mutation in the SLC35A3 gene is associated with vertebral malformations in cattle. A missense mutation likely effects signal transduction which relies on glycosylation. | A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.
Thomsen B, Horn P, Panitz F, Bendixen E, Petersen AH, Holm LE, Nielsen VH, Agerholm JS, Arnbjerg J, Bendixen C., Free PMC Article | 11/6/2012 |
| SLC35A3 is an unlikely candidate for the pathogenesis of vertebral malformations because no mutation was found in this cohort study. | Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.
Ghebranious N, Burmester JK, Glurich I, McPherson E, Ivacic L, Kislow J, Rasmussen K, Kumar V, Raggio CL, Blank RD, Jacobsen FS, Faciszewski T, Womack J, Giampietro PF. | 01/21/2010 |