| Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. | Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno Y, Hamada K, Hamanaka K, Miyoshi K, Tsuchimoto K, Sunada S, Itai T, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Kato Y, Saito K, Ogata K, Matsumoto N. | 02/6/2024 |
| Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment. | Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment.
Hsieh CH, Lee J, Sung HH, Huang YF, Ding YS, Li CY, Yen CL, Hsu CK, Yu CK, Hsieh HY, Hughes MW, Chen PC, Shieh CC. | 12/21/2023 |
| A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up. | A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Montomoli M, Vetro A, Tubili F, Donati MA, Daniotti M, Pochiero F, Rivieri F, Girlando S, Guerrini R. | 08/3/2023 |
| Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. | Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, Roy AG, Radhakrishnan P, Alawi M, Rhodes L, Girisha KM, Kang PB, Kutsche K., Free PMC Article | 07/16/2022 |
| Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients. | Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.
Sun T, Wang D, Ping Y, Sang Y, Dai Y, Wang Y, Liu Z, Duan X, Tao Z, Liu W., Free PMC Article | 10/24/2020 |
| This study shows for the first time that LPS inhibits colonic biotin uptake via decreasing membrane expression of its transporter and that these effects likely involve a CK2-mediated pathway. | Lipopolysaccharide inhibits colonic biotin uptake via interference with membrane expression of its transporter: a role for a casein kinase 2-mediated pathway.
Lakhan R, Said HM., Free PMC Article | 06/10/2017 |
| S. typhimurium infection inhibits intestinal biotin uptake by SLC5A6, and that the inhibition is mediated via the action of proinflammatory cytokines. | Salmonella infection inhibits intestinal biotin transport: cellular and molecular mechanisms.
Ghosal A, Jellbauer S, Kapadia R, Raffatellu M, Said HM., Free PMC Article | 10/3/2015 |
| SMVT-mediated transport is highly specific for R-(+)-alpha-lipoic acid. | Interaction of α-Lipoic Acid with the Human Na+/Multivitamin Transporter (hSMVT).
Zehnpfennig B, Wiriyasermkul P, Carlson DA, Quick M., Free PMC Article | 10/3/2015 |
| SLC5A6 is responsible for the supplies of biotin and pantothenic acid into the brain across the blood brain barrier. | Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells.
Uchida Y, Ito K, Ohtsuki S, Kubo Y, Suzuki T, Terasaki T. | 09/12/2015 |
| these studies demonstrated for the first time the functional and molecular expression of sodium dependent multivitamin transporter (SMVT) in human derived breast cancer (T47D) cells | Biotin uptake by T47D breast cancer cells: functional and molecular evidence of sodium-dependent multivitamin transporter (SMVT).
Vadlapudi AD, Vadlapatla RK, Pal D, Mitra AK. | 08/3/2013 |
| This study shows for the first time the functional and molecular presence of SMVT in immortalized human corneal epithelial (HCEC) and retinal pigment epithelial (D407) cells | Functional and molecular aspects of biotin uptake via SMVT in human corneal epithelial (HCEC) and retinal pigment epithelial (D407) cells.
Vadlapudi AD, Vadlapatla RK, Pal D, Mitra AK., Free PMC Article | 04/6/2013 |
| PCR analysis had confirmed the existence of FR-alpha, SMVT, and B ((0, +)) in Y-79 and ARPE-19 cells. | Differential expression of folate receptor-alpha, sodium-dependent multivitamin transporter, and amino acid transporter (B (0, +)) in human retinoblastoma (Y-79) and retinal pigment epithelial (ARPE-19) cell lines.
Jwala J, Vadlapatla RK, Vadlapudi AD, Boddu SH, Pal D, Mitra AK., Free PMC Article | 01/26/2013 |
| This study for the first time confirms the molecular expression of SMVT and demonstrates that SMVT, responsible for biotin uptake, is functionally active in PC-3 prostate cancer cells | Molecular expression and functional activity of sodium dependent multivitamin transporter in human prostate cancer cells.
Patel M, Vadlapatla RK, Shah S, Mitra AK. | 01/26/2013 |
| Cys(294) is essential for the function of the human sodium-dependent multivitamin transporter. | Cys(294) is essential for the function of the human sodium-dependent multivitamin transporter.
Ghosal A, Said HM., Free PMC Article | 04/28/2012 |
| Human SMVT protein is glycosylated, and that glycosylation is important for its function. The study also shows a role for the putative PKC-phosphorylation site Thr(286) of hSMVT in the PKC-mediated regulation of biotin uptake. | Role of the putative N-glycosylation and PKC-phosphorylation sites of the human sodium-dependent multivitamin transporter (hSMVT) in function and regulation.
Ghosal A, Subramanian VS, Said HM., Free PMC Article | 08/20/2011 |
| PDZD11 is an interacting partner with hSMVT in intestinal epithelial cells and that this interaction affects hSMVT function and cell biology. | Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporter.
Nabokina SM, Subramanian VS, Said HM., Free PMC Article | 07/2/2011 |
| These results show important role for His(1)(1) and His(2) residues in hSMVT function, which is most probably mediated via an effect on level of hSMVT expression at the cell membrane. | Structure-function activity of the human sodium-dependent multivitamin transporter: role of His¹¹⁵ and His²⁵⁴.
Ghosal A, Said HM., Free PMC Article | 02/5/2011 |
| hSMVT may play an important role in the homeostasis of I(-) in the body | Surprising substrate versatility in SLC5A6: Na+-coupled I- transport by the human Na+/multivitamin transporter (hSMVT).
de Carvalho FD, Quick M., Free PMC Article | 02/5/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
Ross CJ, Katzov-Eckert H, Dubé MP, Brooks B, Rassekh SR, Barhdadi A, Feroz-Zada Y, Visscher H, Brown AM, Rieder MJ, Rogers PC, Phillips MS, Carleton BC, Hayden MR, CPNDS Consortium. | 12/2/2009 |
| Conclude that the COOH tail of hSMVT contains several determinants important for polarized targeting and biotin transport in epithelial cells. | Membrane targeting and intracellular trafficking of the human sodium-dependent multivitamin transporter in polarized epithelial cells.
Subramanian VS, Marchant JS, Boulware MJ, Ma TY, Said HM., Free PMC Article | 01/21/2010 |
| findings from this study are consistent with the theory that HCS senses biotin, and that biotin regulates its own cellular uptake by participating in HCS-dependent chromatin remodeling events at the SMVT promoter 1 locus in Jurkat cells. | Holocarboxylase synthetase regulates expression of biotin transporters by chromatin remodeling events at the SMVT locus.
Gralla M, Camporeale G, Zempleni J., Free PMC Article | 01/21/2010 |
| KLF-4 and AP-2 is regulating the activity of the hSMVT promoter in the intestine and provide direct in vivo confirmation of hSMVT promoter activity. | Regulation of the human biotin transporter hSMVT promoter by KLF-4 and AP-2: confirmation of promoter activity in vivo.
Reidling JC, Said HM. | 01/21/2010 |
| in intestinal and liver epithelial cells, SMVT is the major (if not the only) biotin uptake system that operates. | Biotin uptake by human intestinal and liver epithelial cells: role of the SMVT system.
Balamurugan K, Ortiz A, Said HM. | 01/21/2010 |
| A sodium-dependent multivitamin transporter, SMVT, responsible for biotin uptake and transport, was identified and functionally characterized in MDCK-MDR1 cells. | Functional characterization of sodium-dependent multivitamin transporter in MDCK-MDR1 cells and its utilization as a target for drug delivery.
Luo S, Kansara VS, Zhu X, Mandava NK, Pal D, Mitra AK., Free PMC Article | 01/21/2010 |
| biotin uptake by human renal epithelial cells occurs via the hSMVT system and that the process is regulated by intracellular PKC- and Ca(2+)/calmodulin-mediated pathways. | Biotin uptake by human proximal tubular epithelial cells: cellular and molecular aspects.
Balamurugan K, Vaziri ND, Said HM. | 01/21/2010 |