| A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2. | A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.
Li D, Mukhopadhyay S., Free PMC Article | 11/22/2021 |
| Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell Lines Increases Transduction Efficiency of Adeno-Associated Virus 9: Implications for Gene Therapy Potency Assays. | Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell Lines Increases Transduction Efficiency of Adeno-Associated Virus 9: Implications for Gene Therapy Potency Assays.
Banning A, Zakrzewicz A, Chen X, Gray SJ, Tikkanen R., Free PMC Article | 10/30/2021 |
| The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi. | The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi.
Ury B, Potelle S, Caligiore F, Whorton MR, Bommer GT., Free PMC Article | 09/4/2021 |
| Slc35a1 deficiency causes thrombocytopenia due to impaired megakaryocytopoiesis and excessive platelet clearance in the liver. | Slc35a1 deficiency causes thrombocytopenia due to impaired megakaryocytopoiesis and excessive platelet clearance in the liver.
Ma X, Li Y, Kondo Y, Shi H, Han J, Jiang Y, Bai X, Archer-Hartmann SA, Azadi P, Ruan C, Fu J, Xia L., Free PMC Article | 07/10/2021 |
| Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter. | Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter.
Szulc B, Zadorozhna Y, Olczak M, Wiertelak W, Maszczak-Seneczko D., Free PMC Article | 06/26/2021 |
| Data indicate a congenital deficiency in solute carrier family 35 (CMP-sialic acid transporter), member A1 (SLC35A1) mutation in two siblings born to consanguineous parents and who displayed moderate macrothrombocytopenia. | A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Kauskot A, Pascreau T, Adam F, Bruneel A, Reperant C, Lourenco-Rodrigues MD, Rosa JP, Petermann R, Maurey H, Auditeau C, Lasne D, Denis CV, Bryckaert M, de Lonlay P, Lavenu-Bombled C, Melki J, Borgel D., Free PMC Article | 10/26/2019 |
| We performed exome sequencing on an individual with a profound neurological presentation and identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in the CMP-sialic acid transporter, SLC35A1. Patient primary fibroblasts and serum showed a considerable decrease in the amount of N- and O-glycans terminating in sialic acid | Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Ensslen M, Freeze HH., Free PMC Article | 06/9/2018 |
| the SLC35A1 generates additional isoforms through alternative splicing. | A functional splice variant of the human Golgi CMP-sialic acid transporter.
Salinas-Marín R, Mollicone R, Martínez-Duncker I. | 12/9/2017 |
| SLC35A1-deficient cells lack of alpha-dystroglycan O-mannosylation, ligand binding and incorporation of sialic acids. | Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.
Riemersma M, Sandrock J, Boltje TJ, Büll C, Heise T, Ashikov A, Adema GJ, van Bokhoven H, Lefeber DJ. | 02/6/2016 |
| We confirm an autosomal recessive, generalized sialylation defect due to mutations in SLC35A1 | Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.
Mohamed M, Ashikov A, Guillard M, Robben JH, Schmidt S, van den Heuvel B, de Brouwer AP, Gerardy-Schahn R, Deen PM, Wevers RA, Lefeber DJ, Morava E. | 11/16/2013 |
| CMP-sialic acid transporter is localized in the medial-trans Golgi | The CMP-sialic acid transporter is localized in the medial-trans Golgi and possesses two specific endoplasmic reticulum export motifs in its carboxyl-terminal cytoplasmic tail.
Zhao W, Chen TL, Vertel BM, Colley KJ. | 01/21/2010 |
| substrate binding specificity | Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental and chimeric transporters.
Aoki K, Ishida N, Kawakita M. | 01/21/2010 |
| this defect is a new type of congenital disorder of glycosylation (CDG) of type IIf affecting the transport of CMP-sialic acid into the Golgi apparatus. | Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
Martinez-Duncker I, Dupré T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R. | 01/21/2010 |
| this study, we introduced two critical genes encoding human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter into tobacco suspension-cultured cell to pave a route for sialic biosynthetic pathway. | Expression of human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter in tobacco suspension-cultured cell.
Misaki R, Fujiyama K, Seki T. | 01/21/2010 |