{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Schafer N"],"funding":["European Union’s Seventh Framework Programme","Danish Council for independent research","German Research Foundation","King Saud University, Saud Arabia","Russian Academic Excellence Project","Horizon 2020 Research and Innovation Programme","King Saud University, Saudi Arabia"],"pagination":["e0205109"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6171906"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(10)"],"pubmed_abstract":["Sodium-glucose transporters (SGLT) belong to the solute carrier 5 family, which is characterized by sodium dependent transport of sugars and other solutes. In contrast, the human SGLT3 (hSGLT3) isoform, encoded by SLC5A4, acts as a glucose sensor that does not transport sugar but induces membrane depolarization by Na+ currents upon ligand binding. Whole-exome sequencing (WES) of several extended pedigrees with high density of attention-deficit/hyperactivity disorder (ADHD) identified a triplet ATG deletion in SLC5A4 leading to a single amino acid loss (ΔM500) in the hSGLT3 protein imperfectly co-segregating with the clinical phenotype of ADHD. Since mutations in homologous domains of hSGLT1 and hSGLT2 were found to affect intestinal and renal function, respectively, we analyzed the functio"],"journal":["PloS one"],"pubmed_title":["Functional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD."],"pmcid":["PMC6171906"],"funding_grant_id":["DFF-6108-00122","5-100","728018 (Eat2beNICE","SFB TRR58-A05","FP7/2007–2013/No. 602805"],"pubmed_authors":["Friedrich M","Kollert S","Doring F","Schafer N","Lesch KP","Koepsell H","Wischmeyer E","Jorgensen ME","Geiger D"],"additional_accession":[]},"is_claimable":false,"name":"Functional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD.","description":"Sodium-glucose transporters (SGLT) belong to the solute carrier 5 family, which is characterized by sodium dependent transport of sugars and other solutes. In contrast, the human SGLT3 (hSGLT3) isoform, encoded by SLC5A4, acts as a glucose sensor that does not transport sugar but induces membrane depolarization by Na+ currents upon ligand binding. Whole-exome sequencing (WES) of several extended pedigrees with high density of attention-deficit/hyperactivity disorder (ADHD) identified a triplet ATG deletion in SLC5A4 leading to a single amino acid loss (ΔM500) in the hSGLT3 protein imperfectly co-segregating with the clinical phenotype of ADHD. Since mutations in homologous domains of hSGLT1 and hSGLT2 were found to affect intestinal and renal function, respectively, we analyzed the functio","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018","modification":"2026-04-30T03:21:58.293Z","creation":"2019-03-27T00:03:32Z"},"accession":"S-EPMC6171906","cross_references":{"pubmed":["30286162"],"doi":["10.1371/journal.pone.0205109"]}}