{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC19A3 encodes the human thiamine transporter‐2, a 12‐transmembrane domain protein essential for the carrier‐mediated uptake of thiamine into cells. Loss‐of‐function mutations in SLC19A3 result in a spectrum of neurometabolic disorders—including biotin‐responsive basal ganglia disease, Wernicke’s‐like encephalopathy, and Leigh syndrome—characterized by subacute encephalopathy, basal ganglia necrosis, and rapid neurodegeneration that are, in many cases, amenable to treatment with high doses of thiamine and/or biotin."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nTranscriptional regulation and adaptive expression of SLC19A3 are central to its physiological role. Detailed promoter analyses have revealed that its basal activity depends on key cis‐elements such as the SP1/GC‐box and NF1 binding site, findings validated in intestinal epithelial cells and transgenic models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In parallel, studies in leukocytes, renal proximal tubule cells, pancreatic β‐cells, and Caco‑2 cells have demonstrated that SLC19A3 expression is adaptively up‐ or down‐regulated in response to extracellular thiamine levels, metabolic stress, and hypoxia—with HIF‑1α playing a direct regulatory role—and is subject to epigenetic modification in malignant tissues."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its canonical role in thiamine uptake, SLC19A3 exhibits a broader substrate specificity by mediating the transport of other cationic compounds such as metformin and pyridoxine derivatives, thereby influencing drug disposition and potential drug–nutrient interactions. Advanced studies employing live‐cell imaging and cryo–electron microscopy have elucidated its vesicular trafficking, membrane targeting in polarized cells, and structural conformations that underpin both its physiological and pharmacological functions. Genetic variants in SLC19A3 contribute to differential susceptibility to diabetic microvascular complications as well as altered cellular responses in various tissues, including the retina, and underscore the significance of intracellular partnering in modulating its function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "16", "end_ref": "31"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Wen-Qi Zeng, Eiman Al-Yamani, James S Acierno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/431216"}], "href": "https://doi.org/10.1086/431216"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15871139"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15871139"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kenichiro Yamada, Kiyokuni Miura, Kenju Hara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-11-171"}], "href": "https://doi.org/10.1186/1471-2350-11-171"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21176162"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21176162"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mercedes Serrano, Mónica Rebollo, Christel Depienne, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mov Disord (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mds.25008"}], "href": "https://doi.org/10.1002/mds.25008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22777947"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22777947"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mike Gerards, Rick Kamps, Jo van Oevelen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awt013"}], "href": "https://doi.org/10.1093/brain/awt013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23423671"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23423671"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Sietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awt054"}], "href": "https://doi.org/10.1093/brain/awt054"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23482991"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23482991"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Hussein Algahtani, Saeed Ghamdi, Bader Shirah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurol Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/01616412.2016.1263176"}], "href": "https://doi.org/10.1080/01616412.2016.1263176"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27905264"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27905264"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Svetlana M Nabokina, Hamid M Said "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Gastrointest Liver Physiol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpgi.00234.2004"}], "href": "https://doi.org/10.1152/ajpgi.00234.2004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15217784"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15217784"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Tatyana I Vlasova, Shawna L Stratton, Amanda M Wells, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Nutr (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jn/135.1.42"}], "href": "https://doi.org/10.1093/jn/135.1.42"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15623830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15623830"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Svetlana M Nabokina, Jack C Reidling, Hamid M Said "}, {"type": "b", "children": [{"type": "t", "text": "Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M505243200"}], "href": "https://doi.org/10.1074/jbc.M505243200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16055442"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16055442"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Balasubramaniem Ashokkumar, Nosratola D Vaziri, Hamid M Said "}, {"type": "b", "children": [{"type": "t", "text": "Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Renal Physiol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajprenal.00078.2006"}], "href": "https://doi.org/10.1152/ajprenal.00078.2006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16705148"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16705148"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Lisa Mee, Svetlana M Nabokina, V Thillai Sekar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Gastrointest Liver Physiol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpgi.00092.2009"}], "href": "https://doi.org/10.1152/ajpgi.00092.2009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19423748"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19423748"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Rebecca Sweet, Amber Paul, Jason Zastre "}, {"type": "b", "children": [{"type": "t", "text": "Hypoxia induced upregulation and function of the thiamine transporter, SLC19A3 in a breast cancer cell line."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Biol Ther (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/cbt.10.11.13444"}], "href": "https://doi.org/10.4161/cbt.10.11.13444"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20930543"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20930543"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Enders K O Ng, Candy P H Leung, Vivian Y Shin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Quantitative analysis and diagnostic significance of methylated SLC19A3 DNA in the plasma of breast and gastric cancer patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0022233"}], "href": "https://doi.org/10.1371/journal.pone.0022233"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21789241"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21789241"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "James R Larkin, Fang Zhang, Lisa Godfrey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Glucose-induced down regulation of thiamine transporters in the kidney proximal tubular epithelium produces thiamine insufficiency in diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0053175"}], "href": "https://doi.org/10.1371/journal.pone.0053175"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23285265"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23285265"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Svetlana M Nabokina, Veedamali S Subramanian, Judith E Valle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Adaptive regulation of human intestinal thiamine uptake by extracellular substrate level: a role for THTR-2 transcriptional regulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Gastrointest Liver Physiol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpgi.00237.2013"}], "href": "https://doi.org/10.1152/ajpgi.00237.2013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23989004"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23989004"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Shuqian Liu, Arnold Stromberg, Hsin-Hsiung Tai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thiamine transporter gene expression and exogenous thiamine modulate the expression of genes involved in drug and prostaglandin metabolism in breast cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cancer Res (2004)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15328374"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15328374"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Veedamali S Subramanian, Jonathan S Marchant, Hamid M Said "}, {"type": "b", "children": [{"type": "t", "text": "Targeting and trafficking of the human thiamine transporter-2 in epithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M512765200"}], "href": "https://doi.org/10.1074/jbc.M512765200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16371350"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16371350"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Veedamali S Subramanian, Zainab M Mohammed, Andres Molina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Physiol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1113/jphysiol.2007.128843"}], "href": "https://doi.org/10.1113/jphysiol.2007.128843"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17463047"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17463047"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Veedamali S Subramanian, Svetlana M Nabokina, Hamid M Said "}, {"type": "b", "children": [{"type": "t", "text": "Association of TM4SF4 with the human thiamine transporter-2 in intestinal epithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dig Dis Sci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10620-013-2952-y"}], "href": "https://doi.org/10.1007/s10620-013-2952-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24282057"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24282057"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Xiaomin Liang, Huan-Chieh Chien, Sook Wah Yee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metformin Is a Substrate and Inhibitor of the Human Thiamine Transporter, THTR-2 (SLC19A3)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Pharm (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/acs.molpharmaceut.5b00501"}], "href": "https://doi.org/10.1021/acs.molpharmaceut.5b00501"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26528626"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26528626"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Massimo Porta, Iiro Toppila, Niina Sandholm, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variation in SLC19A3 and Protection From Microvascular Damage in Type 1 Diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db15-1247"}], "href": "https://doi.org/10.2337/db15-1247"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26718501"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26718501"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0149055"}], "href": "https://doi.org/10.1371/journal.pone.0149055"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26863430"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26863430"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Kristy Zera, Rebecca Sweet, Jason Zastre "}, {"type": "b", "children": [{"type": "t", "text": "Role of HIF-1α in the hypoxia inducible expression of the thiamine transporter, SLC19A3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2016.10.013"}], "href": "https://doi.org/10.1016/j.gene.2016.10.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27743994"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27743994"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Mohammad F Aljabri, Naglaa M Kamal, Moinuddin Arif, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Medicine (Baltimore) (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MD.0000000000004819"}], "href": "https://doi.org/10.1097/MD.0000000000004819"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27749535"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27749535"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Carlos R Ferreira, Matthew T Whitehead, Eyby Leon "}, {"type": "b", "children": [{"type": "t", "text": "Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.38189"}], "href": "https://doi.org/10.1002/ajmg.a.38189"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28402605"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28402605"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Whitney Whitford, Isobel Hawkins, Emma Glamuzina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Compound heterozygous "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SLC19A3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cold Spring Harb Mol Case Stud (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/mcs.a001909"}], "href": "https://doi.org/10.1101/mcs.a001909"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28696212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28696212"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Tülay Kamaşak, Cengiz Havalı, Hülya İnce, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Paediatr Neurol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejpn.2018.06.009"}], "href": "https://doi.org/10.1016/j.ejpn.2018.06.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30054086"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30054086"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Said El Shamieh, Maria G Stathopoulou, Amélie Bonnefond, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Obesity status modifies the association between rs7556897T>C in the intergenic region SLC19A3-CCL20 and blood pressure in French children."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Chem Lab Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1515/cclm-2019-0292"}], "href": "https://doi.org/10.1515/cclm-2019-0292"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32238601"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32238601"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Takahiro Yamashiro, Tomoya Yasujima, Hamid M Said, et al. "}, {"type": "b", "children": [{"type": "t", "text": "pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.RA120.013610"}], "href": "https://doi.org/10.1074/jbc.RA120.013610"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33008889"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33008889"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0258202"}], "href": "https://doi.org/10.1371/journal.pone.0258202"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34614013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34614013"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Florian Gabriel, Lea Spriestersbach, Antonia Fuhrmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural basis of thiamine transport and drug recognition by SLC19A3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-024-52872-8"}], "href": "https://doi.org/10.1038/s41467-024-52872-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39358356"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39358356"}]}]}]}