Affinage

SLC35A2

UDP-galactose translocator · UniProt P78381

Length
396 aa
Mass
41.3 kDa
Annotated
2026-06-10
60 papers in source corpus 25 papers cited in narrative 25 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SLC35A2 is a Golgi- and ER-localized UDP-galactose transporter that supplies activated galactose to the secretory glycosylation machinery, and its loss disrupts N-glycosylation, O-glycosylation, and glycosphingolipid synthesis (PMID:23561849, PMID:21894462, PMID:40576648). Transport activity depends on specific transmembrane glycine and lysine residues (Gly-202, Gly-214, Lys-78, Lys-297) and on its short N-terminal region, which is required specifically for N-glycan galactosylation, whereas the cytoplasmic loops are dispensable (PMID:25451267, PMID:30834435); disease-associated missense and frameshift variants abolish or partially reduce transport in proportion to the wild-type/mutant allele ratio (PMID:30834435, PMID:30817854). The transporter operates within Golgi glycosylation assemblies, forming homomers and complexes with glycosyltransferases including B4GalT1, the core 1 enzyme C1GalT1 and its chaperone Cosmc, and Mgat enzymes, and acting in balanced cooperation with the UDP-GlcNAc transporter SLC35A3 to achieve proper galactosylation (PMID:25944901, PMID:36933771, PMID:37552213, PMID:40230451). Functionally, SLC35A2 supports galactosylation of N-glycans, mucin-type O-GalNAc and core 1 O-glycans, and gangliosides, with loss-of-function causing accumulation of truncated and agalactosylated glycans on cell-adhesion and axon-guidance glycoproteins (PMID:30584598, PMID:41867720, PMID:39900685). In the developing cortex, focal, mosaic, and lineage-restricted loss of Slc35a2 disrupts radial neuronal migration, producing heterotopic neurons, altered dendritic arborization and intrinsic excitability, epileptiform activity, and seizures, with neuronal—rather than oligodendroglial—deficiency required for epileptogenesis (PMID:38909838, PMID:39236911, PMID:39460689); human iPSC-derived neurons lacking SLC35A2 show disrupted glycomes, skewed GABAergic differentiation, and increased inhibitory drive (PMID:40418734). The defect underlies a congenital disorder of glycosylation in which dietary galactose supplementation can normalize transferrin glycosylation and restore glycosphingolipid synthesis (PMID:25778940, PMID:40576648).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2013 High

    Established that SLC35A2 is the Golgi UDP-galactose transporter whose mutation causes a human congenital disorder of glycosylation, linking a transport defect to galactose-deficient glycoproteins.

    Evidence UDP-galactose transport assay, exome sequencing, and transferrin glycosylation analysis in patient samples; localization and X-inactivation analysis in expression systems

    PMID:23561849 PMID:24115232

    Open questions at the time
    • Did not define which transmembrane residues mediate transport
    • Did not resolve tissue-specific consequences beyond blood glycoproteins
  2. 2014 Medium

    Mapped the structural determinants of substrate selectivity by showing the N-terminal 35 residues are required for N-glycan galactosylation and that UGT functionally couples with the GlcNAc transporter NGT/SLC35A3.

    Evidence Domain-deletion and UGT-NGT/CST chimeric complementation in UGT-deficient cell lines

    PMID:25451267

    Open questions at the time
    • Did not establish how the N-terminus selects galactosylation over other transport functions
    • Single lab, no structural model
  3. 2011 Medium

    Defined the breadth of glycoconjugates dependent on the transporter, showing both UGT1 and UGT2 splice variants support N-, O-glycosylation and chondroitin-4-sulfate synthesis.

    Evidence Complementation analysis in UGT-deficient MDCK and CHO cell lines with glycan readouts

    PMID:21894462

    Open questions at the time
    • Did not explain functional divergence between UGT1 and UGT2
    • Keratan sulfate defect remained unrescued and unexplained
  4. 2015 High

    Demonstrated SLC35A2 acts within multi-enzyme Golgi assemblies, positioning the transporter in proximity to Mgat glycosyltransferases and SLC35A3, and showed dietary galactose can rescue glycosylation in patients.

    Evidence Proximity ligation assay and FLIM-FRET for complexes; complementation in UGT-deficient cells with galactose supplementation

    PMID:25778940 PMID:25944901

    Open questions at the time
    • Did not establish stoichiometry or stability of the assemblies
    • Mechanism of galactose rescue at the transporter level not defined here
  5. 2019 High

    Identified the transmembrane residues essential for transport and built a quantitative genotype-function relationship across disease variants, including a glycosphingolipid (Gb3) readout.

    Evidence Structure-guided mutagenesis with Shiga toxin binding assay in knockout cells; UDP-galactose transport assay in primary fibroblasts correlated to allele ratio

    PMID:30817854 PMID:30834435

    Open questions at the time
    • No experimental transporter structure
    • Did not connect residue-level defects to neuronal phenotypes
  6. 2018 Medium

    Connected somatic SLC35A2 mutations to focal epilepsy by demonstrating aberrant brain N-glycans (accumulation of high-GlcNAc structures) in resected epileptogenic tissue.

    Evidence Glyco-capture and nanoLC/MS N-glycan profiling of brain tissue with somatic mutations

    PMID:30584598

    Open questions at the time
    • Did not establish causal link from glycan defect to seizures
    • No cell-type resolution
  7. 2022 Medium

    Showed that SLC35A2 controls Golgi recruitment of galactosyltransferases and that its loss reprograms cell-adhesion glycosylation, driving EMT-like and pro-metastatic phenotypes.

    Evidence CRISPR knockout in MDCK cells with morphology/motility readouts; RNAi knockdown, co-IP, lectin microarray, and mouse metastasis model in hepatocellular carcinoma cells

    PMID:35892570 PMID:36454514

    Open questions at the time
    • Direct B4GalT1-SLC35A2 binding relied on co-IP without structural validation
    • Causal glycoprotein substrates driving invasion not pinpointed
  8. 2021 Medium

    Expanded the SLC35A2 interactome and proposed a stabilizing role, showing association with C1GalT1/Cosmc, Golgi ion/pH regulators, and basigin.

    Evidence Co-immunoprecipitation, western blotting, and imaging in knockout cells; pull-down MS with NanoBiT confirmation

    PMID:34242836 PMID:36933771

    Open questions at the time
    • Single-lab interaction data, limited reciprocal validation
    • Functional significance of ion-channel/pH-regulator partners undefined
  9. 2023 Medium

    Established that proper N-glycosylation requires balanced cooperation between SLC35A2 and SLC35A3 rather than either transporter alone.

    Evidence CRISPR double knockout in HEK293T cells with hybrid SLC35A2-SLC35A3 protein rescue and glycan analysis

    PMID:37552213

    Open questions at the time
    • Molecular basis of the balance requirement not resolved
    • Did not test relevance in neuronal context
  10. 2024 High

    Demonstrated a cell-autonomous neurodevelopmental role: Slc35a2 loss disrupts radial migration, producing heterotopic neurons, altered intrinsic excitability, and epileptiform activity, with neuronal deficiency required for epileptogenesis.

    Evidence In utero electroporation CRISPR/shRNA and conditional Emx1-Cre/Olig2-Cre knockout mice with cortical layer analysis, electrophysiology, and EEG

    PMID:38909838 PMID:39236911 PMID:39460689

    Open questions at the time
    • Did not define the specific glycan substrate driving migration defects
    • Link between transport defect and altered excitability mechanistically incomplete
  11. 2025 High

    Linked loss-of-function to specific glycan defects on adhesion/axon-guidance glycoproteins and to altered neuronal network behavior, implicating truncated O-GalNAc and agalactosylated N-glycans in cortical malformation and epilepsy.

    Evidence iPSC-derived neuron glycomics/electrophysiology/transcriptomics; human MOGHE brain glycoproteomics; conditional mouse and primary neuron models (one preprint)

    PMID:39900685 PMID:40418734 PMID:41867720

    Open questions at the time
    • Direct causal glycoprotein targets mediating epileptogenesis not isolated
    • O-GalNAc mechanism partly from preprint awaiting peer review
  12. 2025 Medium

    Defined cytosolic UDP-galactose supply (via GALE) as a determinant of SLC35A2 homomerization and B4GALT1 interaction, and confirmed galactose-responsive glycosphingolipid synthesis.

    Evidence GALE/GALT knockout with NanoBiT interaction assays; patient fibroblast and CHO-Lec8 GSL profiling with galactose supplementation

    PMID:40230451 PMID:40576648

    Open questions at the time
    • Causal direction between substrate availability and complex assembly inferred from knockouts
    • Therapeutic generalizability of galactose rescue across tissues unestablished
  13. 2025 Medium

    Extended the functional repertoire to ortholog and pathogen contexts, showing a conserved role in mucin-type O-glycosylation of neuromuscular architecture and a requirement for paramyxovirus fusion/entry.

    Evidence Drosophila Ugalt knockdown with genetic epistasis to dC1GalT1; CRISPR loss-of-function screen and knockout infection/fusion assays with multiple paramyxoviruses

    PMID:39792924 PMID:41008563

    Open questions at the time
    • Direct glycan target on viral fusion machinery not identified
    • Conservation of O-GalNAc role to mammalian NMJ not directly tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • The specific galactosylated glycoproteins whose deficiency causally produces neuronal migration failure and epileptogenesis remain unidentified, and no experimental transporter structure exists.
  • No isolated causal substrate linking glycan defect to seizures
  • No high-resolution structure of the human transporter
  • Mechanism coupling glycan loss to altered intrinsic excitability undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005215 transporter activity 5 GO:0140104 molecular carrier activity 3
Localization
GO:0005794 Golgi apparatus 5 GO:0005783 endoplasmic reticulum 1
Pathway
R-HSA-392499 Metabolism of proteins 4 R-HSA-1266738 Developmental Biology 3 R-HSA-1643685 Disease 3 R-HSA-1430728 Metabolism 2
Partners
B4GALT1BSGC1GALT1COSMCGPR89BMGAT1SLC35A3TMCO1

Evidence

Reading pass · 25 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 Mutations in SLC35A2 reduce UDP-galactose transport into the Golgi, leading to galactose-deficient glycoproteins (N-glycosylation defect). The protein is Golgi-localized. Biochemical UDP-galactose transport assay, whole-exome sequencing, transferrin glycosylation analysis American journal of human genetics High 23561849
2013 De novo frameshift mutations in SLC35A2 result in improperly expressed/unstable mutant proteins, while a missense mutant protein localizes correctly to the Golgi apparatus. Only the wild-type allele is expressed in blood leukocytes due to skewed X-inactivation. Transient expression experiments with Golgi co-localization imaging, X-inactivation analysis, mRNA analysis in lymphoblastoid cells Human mutation Medium 24115232
2015 A missense mutation (p.G266V) in SLC35A2 abolishes UDP-galactose transporter function as demonstrated by failure to complement UGT-deficient MDCK-RCAr and CHO-Lec8 cells, while wild-type UGT expression rescues galactosylation. Dietary galactose supplementation nearly completely normalizes transferrin glycosylation. Complementation assay in UGT-deficient cell lines (MDCK-RCAr and CHO-Lec8), transferrin glycosylation analysis Journal of inherited metabolic disease High 25778940
2015 SLC35A2 (UGT1 and UGT2 splice variants) form complexes with mannoside acetylglucosaminyltransferases (Mgat1, Mgat2, Mgat4B, Mgat5) in the Golgi membrane. All four Mgats are in close proximity to NGT (SLC35A3) and UGT1, but only Mgat4B is in close proximity to UGT2 (distance <10 nm), while other Mgats are 10–40 nm from UGT2. In situ proximity ligation assay (PLA), FLIM-FRET The Journal of biological chemistry Medium 25944901
2011 Both splice variants of UDP-galactose transporter (UGT1 and UGT2/SLC35A2) are required for N- and O-glycosylation of proteins, and both are necessary for chondroitin-4-sulfate synthesis. UGT2 is more abundant in most mammalian tissues and cell lines. MDCK-RCAr cells do not produce keratan sulfate, and neither UGT splice variant rescues this defect. Complementation analysis in UGT-deficient MDCK and CHO cell lines, glycan analysis Glycoconjugate journal Medium 21894462
2014 The short N-terminal region of SLC35A2 (first 35 amino acids) is crucial for galactosylation of N-glycans. Chimeric proteins composed of UGT fused to NGT (SLC35A3) but not CMP-sialic acid transporter (CST) corrected galactosylation defects in UGT-deficient cell lines, indicating functional coupling between UGT and NGT. Chimeric protein complementation in UGT-deficient cell lines, Golgi localization analysis Biochemical and biophysical research communications Medium 25451267
2019 Two critical glycine residues (Gly-202, Gly-214) and two lysine residues (Lys-78, Lys-297) in transmembrane segments are required for SLC35A2 transport activity. The N- and C-terminal cytoplasmic loops are dispensable. Disease-associated mutations S213F and G282R completely abolish function; R55L, G266V, and S304P partially inhibit function; V331I, V258M, and Y267C do not impact function. SLC35A2 activity is required for glycosphingolipid Gb3 surface expression. Structure-guided mutagenesis, activity rescue assay using Shiga toxin binding as readout in ΔSLC35A2 cells Glycobiology High 30834435
2019 A robust biochemical assay measuring SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts shows that transport activity is directly correlated with the ratio of wild-type to mutant alleles. UDP-galactose transport assay in primary patient fibroblasts Human mutation Medium 30817854
2018 Brain somatic mutations in SLC35A2 cause aberrant N-glycan structures, specifically accumulation of high-degree N-acetylglucosamine glycans, in affected brain tissues from patients with intractable focal epilepsy. Tissue glyco-capture and nanoLC/mass spectrometry N-glycan analysis of brain tissue with somatic SLC35A2 mutations Neurology. Genetics Medium 30584598
2021 SLC35A2 associates with core 1 β-1,3-galactosyltransferase 1 (C1GalT1/T-synthase) and its chaperone Cosmc. In SLC35A2-deficient cells, protein levels of C1GalT1 and Cosmc are decreased and their Golgi localization is less pronounced, suggesting SLC35A2 stabilizes these O-glycosylation pathway components. Endogenous Cosmc localizes to both ER and Golgi in wild-type cells. SLC35A2 was also identified as a novel molecular target of the antifungal agent itraconazole. Co-immunoprecipitation, western blotting, subcellular fractionation/imaging in SLC35A2-deficient HEK293T cells Biochimica et biophysica acta. Molecular cell research Medium 36933771
2021 SLC35A2 interacts with ATPases (ATP2A2, ATP2C1), Golgi pH regulator B (GPR89B), calcium channel (TMCO1), and basigin (BSG) as novel interaction partners, confirmed by NanoBiT split-luciferase assay. Pull-down mass spectrometry, NanoBiT split-luciferase complementation assay Journal of proteomics Medium 34242836
2022 SLC35A2 deficiency in MDCK cells promotes an epithelial-to-mesenchymal transition (EMT)-like phenotype: cells adopt elongated spindle morphology, show impaired cell-cell adhesion, downregulate E-cadherin, upregulate fibronectin and vimentin, reorganize vimentin intermediate filaments, trigger Golgi compaction, and increase motility and invasiveness. CRISPR/Cas9 knockout of SLC35A2 in MDCK cells, qPCR, western blotting, morphology/motility assays Cells Medium 35892570
2022 SLC35A2 activity is required for recruitment of galactosyltransferase B4GalT1 to the Golgi apparatus in hepatocellular carcinoma cells; SLC35A2 depletion alters membrane glycan profiles and dysregulates glycosylation/expression of cell adhesion molecules, promoting invasion and metastasis. RNA interference knockdown, co-immunoprecipitation, fluorescence microscopy, lectin microarray, in vivo nude mouse metastasis model Cellular oncology (Dordrecht, Netherlands) Medium 36454514
2024 Focal knockout or knockdown of Slc35a2 in developing mouse cortex (via in utero electroporation with CRISPR or shRNA) disrupts radial neuronal migration, causing heterotopic cells in lower cortical layers and subcortical white matter. Slc35a2 KO in neurons does not alter oligodendrocyte number (suggesting oligodendroglial hyperplasia in MOGHE originates from distinct cell-autonomous effects). Focal KO mice show reduced seizure threshold but not spontaneous seizures. In utero electroporation with CRISPR/Cas9 or shRNA for KO/KD, cortical layer analysis, EEG recording with PTZ challenge Neuroscience letters High 38909838
2024 Mosaic Slc35a2 knockout in layer 2/3 cortical neuronal progenitors causes heterotopic neurons in white matter, increased dendritic arborisation complexity, reduced action potential firing, increased afterhyperpolarization duration, reduced burst-firing, increased epileptiform spiking, and increased locomotor activity in mice. In utero electroporation CRISPR/Cas9 mosaic KO, whole-cell electrophysiology, neuronal reconstruction, EEG recording Neurobiology of disease High 39236911
2024 Slc35a2 conditional knockout from the Emx1 dorsal telencephalic lineage (excitatory neurons and glia) causes early lethality, abnormal cortical development, increased oligodendroglial cell density, early-onset seizures, and developmental delay. EdU birthdating shows Slc35a2 deficiency delays radial neuronal migration from the subventricular zone. Knockout from the Olig2 lineage alone recapitulates increased oligodendroglial density and abnormal EEG but not a clear seizure phenotype, establishing that Slc35a2 deficiency in neurons is required for epileptogenesis. Conditional knockout mouse models (Emx1-Cre and Olig2-Cre), EdU birthdating, EEG recording, histology Epilepsia High 39460689
2025 Loss-of-function variants in SLC35A2 in human iPSC-derived neurons cause disrupted glycomic signatures, precocious neurodevelopment, hypoactive and asynchronous neural networks, and preferential differentiation toward GABAergic fate. Electrophysiology shows increased inhibitory drive at the synaptic level. Isogenic iPSC-derived neuron model, glycomic analysis, multi-electrode array network dynamics, single-cell electrophysiology, single-cell transcriptomics Brain : a journal of neurology High 40418734
2025 SLC35A2 deficiency in a mouse forebrain model causes a specific defect in O-GalNAc glycan synthesis, with absence of O-GalNAc glycans from neuronal tracts in the corpus callosum and accumulation of truncated precursors on extracellular matrix molecules, while other galactose-containing glycoconjugates remain intact. Cultured primary neurons lacking Slc35a2 show impaired development and hyperexcitability. Human brain tissue from SLC35A2-associated intractable epilepsy shows correlation between variant burden and truncated O-GalNAc glycans. Conditional KO mouse model, chemoenzymatic glycan labeling, glycoproteomic analysis, primary neuron culture electrophysiology, human tissue analysis bioRxiv : the preprint server for biologypreprint Medium 41867720
2025 SLC35A2 is essential for paramyxovirus infection: SLC35A2 KO cells show that UGT activity is required for virus-cell fusion during Sendai virus (SeV) entry but not for Newcastle disease virus (NDV) or mumps virus (MuV) entry. SLC35A2 promotes cell-to-cell fusion/syncytia formation during MuV infection, facilitating cell-to-cell spread. CRISPR loss-of-function screen, SLC35A2 KO cell infection assays with multiple paramyxoviruses, fusion/syncytia assays PLoS pathogens Medium 39792924
2025 Glycosphingolipid (GSL) synthesis is severely impaired in SLC35A2-CDG patient fibroblasts and CHO-Lec8 cells, with accumulation of glucosylceramide and deficiency of digalactosylated GSLs and complex gangliosides. Galactose supplementation increases UDP-galactose levels and its transport into the Golgi, restoring GSL synthesis by direct galactose incorporation. Patient-derived fibroblast GSL profiling, CHO-Lec8 model, UDP-galactose transport assay, galactose supplementation experiments Cellular and molecular life sciences : CMLS Medium 40576648
2025 SLC35A2 variants in MOGHE brain tissue cause loss-of-function via altered glycan chains with increased truncated N-glycan glycoforms (agalactosylated glycoforms). Glycoproteins bearing agalactosylated N-glycans are enriched in cell adhesion and axon guidance pathways. Heterotopic neurons show N-glycan damage detectable by chemoenzymatic glycan labeling. Intact glycopeptide profiling, glycan labeling in brain tissue, whole-exome sequencing with ultra-deep amplicon sequencing validation Acta neuropathologica Medium 39900685
2023 SLC35A2/SLC35A3 double knockout glycosylation defect is fully rescued by hybrid proteins (SLC35A2-SLC35A3 or SLC35A3-SLC35A2), while SLC35A3 alone only partially restores galactosylation, demonstrating that proper N-glycosylation requires balanced cooperation between SLC35A2 and SLC35A3. CRISPR double KO in HEK293T cells, hybrid protein expression, glycan analysis FEBS letters Medium 37552213
2025 Cytosolic UDP-Gal biosynthesis (via GALE) is required for SLC35A2 to form homomers and to interact with beta-1,4-galactosyltransferase 1 (B4GALT1) in the Golgi membrane. GALE knockout reduces intracellular UDP-Gal and diminishes SLC35A2 homomer formation and SLC35A2-B4GALT1 interaction. CRISPR/Cas9 KO of GALE/GALT in HEK293T cells, NanoBiT split-luciferase assay, N-glycan profiling Frontiers in molecular biosciences Medium 40230451
2025 SLC35A2 missense (p.G282A) and frameshift (p.F280Tfs*10) variants expressed by in utero electroporation in rat cortex cause neuronal heterotopia in white matter and impaired dendritogenesis at postnatal stages. These phenotypes are recapitulated by in utero silencing of rat Slc35a2, demonstrating a cell-autonomous role for SLC35A2 in neuronal development. The variants variably impact SLC35A2 protein stability and expression. In utero electroporation of rat brain with variant constructs, shRNA knockdown, histology, dendritic morphology analysis Human molecular genetics Medium 41081555
2025 Drosophila Ugalt (ortholog of SLC35A2) knockdown reduces mucin-type O-glycans on muscles and neuromuscular junctions (NMJs) without affecting N-glycans. Ugalt knockdown causes mislocalization of NMJ boutons with deficiency of basement membrane components. Genetic interaction between Ugalt and dC1GalT1 (confirmed by double knockdown and double heterozygous analyses) places Ugalt upstream in the mucin-type O-glycosylation pathway regulating NMJ architecture. Drosophila KO/KD model, glycan staining, NMJ morphology analysis, genetic epistasis (double KD, double heterozygous) Biomolecules Medium 41008563

Source papers

Stage 0 corpus · 60 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American journal of human genetics 114 23561849
2018 Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Annals of neurology 107 29679388
2021 Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta neuropathologica communications 105 33407896
2013 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Human mutation 97 24115232
2004 Transcriptional control of the antimicrobial peptide resistance ugtL gene by the Salmonella PhoP and SlyA regulatory proteins. The Journal of biological chemistry 91 15208313
2015 A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. Journal of inherited metabolic disease 75 25778940
2018 Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation. Neurology. Genetics 63 30584598
2005 UDP-glucuronosyltransferases: gene structures of UGT1 and UGT2 families. Methods in enzymology 62 16399340
2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Human mutation 57 30817854
1994 Isolation of a human YAC contig encompassing a cluster of UGT2 genes and its regional localization to chromosome 4q13. Genomics 54 7835904
2015 UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats). The Journal of biological chemistry 46 25944901
2017 Activation of master virulence regulator PhoP in acidic pH requires the Salmonella-specific protein UgtL. Science signaling 45 28851823
2022 Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology 42 36307217
2019 Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. Journal of inherited metabolic disease 42 30746764
2019 Humanized UGT2 and CYP3A transchromosomic rats for improved prediction of human drug metabolism. Proceedings of the National Academy of Sciences of the United States of America 30 30718425
2016 A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. Brain & development 30 27743886
2018 SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 28 30194038
2011 Comparative analysis of involvement of UGT1 and UGT2 splice variants of UDP-galactose transporter in glycosylation of macromolecules in MDCK and CHO cell lines. Glycoconjugate journal 27 21894462
2022 Rice glycosyltransferase gene UGT2 functions in salt stress tolerance under the regulation of bZIP23 transcription factor. Plant cell reports 26 36224499
2022 Nucleotide sugar transporter SLC35A2 is involved in promoting hepatocellular carcinoma metastasis by regulating cellular glycosylation. Cellular oncology (Dordrecht, Netherlands) 19 36454514
2019 A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Molecular genetics & genomic medicine 19 31231989
2024 Loss of Slc35a2 alters development of the mouse cerebral cortex. Neuroscience letters 14 38909838
2018 Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. BMC medical genetics 14 29907092
2021 Identification of novel potential interaction partners of UDP-galactose (SLC35A2), UDP-N-acetylglucosamine (SLC35A3) and an orphan (SLC35A4) nucleotide sugar transporters. Journal of proteomics 13 34242836
2024 Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing. Neurobiology of disease 12 39236911
2019 Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel activity assay. Glycobiology 12 30834435
2014 Short N-terminal region of UDP-galactose transporter (SLC35A2) is crucial for galactosylation of N-glycans. Biochemical and biophysical research communications 12 25451267
2024 Mouse models of Slc35a2 brain mosaicism reveal mechanisms of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy. Epilepsia 11 39460689
2025 SLC35A2 gene product modulates paramyxovirus fusion events during infection. PLoS pathogens 9 39792924
2023 N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant. Biomedicines 9 36831116
2025 SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics. Brain : a journal of neurology 8 40418734
2023 SLC35A2 deficiency reduces protein levels of core 1 β-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization. Biochimica et biophysica acta. Molecular cell research 8 36933771
2023 Comprehensive Analysis of SLC35A2 in Pan-Cancer and Validation of Its Role in Breast Cancer. Journal of inflammation research 8 37593196
2023 SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE. Neurobiology of disease 8 37739137
2024 SLC35A2 expression drives breast cancer progression via ERK pathway activation. The FEBS journal 7 38143314
2025 Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta neuropathologica 6 39900685
2025 Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation. Cellular and molecular life sciences : CMLS 6 40576648
2022 Complete Reaction Phenotyping of Propranolol and 4-Hydroxypropranolol with the 19 Enzymes of the Human UGT1 and UGT2 Families. International journal of molecular sciences 6 35806479
2021 Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features. Frontiers in genetics 6 34122512
2022 SLC35A2 Deficiency Promotes an Epithelial-to-Mesenchymal Transition-like Phenotype in Madin-Darby Canine Kidney Cells. Cells 5 35892570
2024 Expression, purification, characterization and crystallization of Panax quinquefolius ginsenoside glycosyltransferase Pq3-O-UGT2. Protein expression and purification 4 38184160
2023 The glycosylation defect in solute carrier SLC35A2/SLC35A3 double knockout cells is rescued by SLC35A2-SLC35A3 and SLC35A3-SLC35A2 hybrids. FEBS letters 4 37552213
2022 Analysis of in vitro and in vivo metabolism of zidovudine and gemfibrozil in trans-chromosomic mouse line expressing human UGT2 enzymes. Pharmacology research & perspectives 4 36424908
2018 The evolution of UDP-glycosyl/glucuronosyltransferase 1E (UGT1E) genes in bird lineages is linked to feeding habits but UGT2 genes is not. PloS one 4 30379829
2025 Solute Carrier Family 35 A2 (SLC35A2) Promotes Tumor Progression through MYC-Mediated Pathways in Colorectal Cancer. International journal of medical sciences 3 40303483
2025 Cytosolic UDP-Gal biosynthetic machinery is required for dimerization of SLC35A2 in the Golgi membrane and its interaction with B4GalT1. Frontiers in molecular biosciences 2 40230451
2024 A Novel Biosynthetic Strategy for Ginsenoside Ro: Construction of a Metabolically Engineered Saccharomyces cerevisiae Strain Using a Newly Identified UGAT Gene from Panax ginseng as the Key Enzyme Gene and Optimization of Fermentation Conditions. International journal of molecular sciences 2 39457113
2023 Loss of Slc35a2 alters development of the mouse cerebral cortex. bioRxiv : the preprint server for biology 2 38077069
2025 SLC35A2-mediated bisected GlcNAc-modified extracellular vesicles enhance immune regulation in breast cancer lung metastasis. International immunopharmacology 1 40157085
2025 Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG. Biomolecules 1 41008563
2025 Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex. Human molecular genetics 1 41081555
2025 SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights. International journal of molecular sciences 1 41373710
2024 SLC35A2 expression is associated with HER2 expression in breast cancer. Discover oncology 1 38639872
2020 [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ]. Zhonghua er ke za zhi = Chinese journal of pediatrics 1 32605344
2026 Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2-associated epilepsy. bioRxiv : the preprint server for biology 0 41867720
2025 Small RNA promotes negative feedback of the master virulence regulator PhoP by repressing the PhoQ sensor enhancer UgtL in acidic pH. mSphere 0 41363533
2024 SLC35A2 modulates paramyxovirus fusion events during infection. bioRxiv : the preprint server for biology 0 39253522
2024 SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics. bioRxiv : the preprint server for biology 0 39763953
2021 SLC35A2-CDG: novel variants with two ends of the spectrum. Journal of pediatric endocrinology & metabolism : JPEM 0 34161696
2021 [Analysis of SLC35A2 gene variant in a child with congenital disorder of glycosylation type IIm]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 34625939

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