{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T23:06:23Z","timestamp":1781910383094,"version":"3.54.5"},"reference-count":40,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T00:00:00Z","timestamp":1679356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ibroneuroreports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["IBRO Neuroscience Reports"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.ibneur.2023.03.010","type":"journal-article","created":{"date-parts":[[2023,3,25]],"date-time":"2023-03-25T03:09:02Z","timestamp":1679713742000},"page":"393-397","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19"],"prefix":"10.1016","volume":"14","author":[{"given":"Zachary","family":"Kravetz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainald","family":"Schmidt-Kastner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3\u20134","key":"10.1016\/j.ibneur.2023.03.010_bib1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/BF00688046","article-title":"Aqueductal lesions in 6-aminonicotinamide-treated suckling mice","volume":"71","author":"Aikawa","year":"1986","journal-title":"Acta Neuropathol."},{"issue":"2","key":"10.1016\/j.ibneur.2023.03.010_bib2","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/0165-3806(85)90180-4","article-title":"Aqueduct stenosis induced by a single injection of antivitamin","volume":"354","author":"Aikawa","year":"1985","journal-title":"Brain Res."},{"issue":"2","key":"10.1016\/j.ibneur.2023.03.010_bib3","first-page":"335","article-title":"Lesions in the skin, intestine, and central nervous system induced by an antimetabolite of niacin","volume":"122","author":"Aikawa","year":"1985","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ibneur.2023.03.010_bib4","article-title":"Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency","author":"Belanger","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ibneur.2023.03.010_bib5","first-page":"231","article-title":"Hartnup disease","volume":"55","author":"Borrie","year":"1962","journal-title":"Proc. R. Soc. Med."},{"issue":"Pt 1","key":"10.1016\/j.ibneur.2023.03.010_bib6","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1042\/BST0330233","article-title":"Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder","volume":"33","author":"Br\u00f6er","year":"2005","journal-title":"Biochem. Soc. Trans."},{"issue":"23","key":"10.1016\/j.ibneur.2023.03.010_bib7","doi-asserted-by":"crossref","first-page":"24467","DOI":"10.1074\/jbc.M400904200","article-title":"Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder","volume":"279","author":"Br\u00f6er","year":"2004","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.ibneur.2023.03.010_bib8","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1002\/iub.210","article-title":"The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition","volume":"61","author":"Br\u00f6er","year":"2009","journal-title":"IUBMB Life"},{"issue":"3","key":"10.1016\/j.ibneur.2023.03.010_bib9","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1053\/j.gastro.2008.10.055","article-title":"Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations","volume":"136","author":"Camargo","year":"2009","journal-title":"Gastroenterology"},{"issue":"6","key":"10.1016\/j.ibneur.2023.03.010_bib10","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1111\/bph.13711","article-title":"Identification of novel inhibitors of the amino acid transporter B","volume":"174","author":"Cheng","year":"2017","journal-title":"Br. J. Pharm."},{"issue":"5","key":"10.1016\/j.ibneur.2023.03.010_bib11","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.pediatrneurol.2010.01.009","article-title":"Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder","volume":"42","author":"Cheon","year":"2010","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ibneur.2023.03.010_bib12","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1186\/s12887-014-0311-6","article-title":"Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia I, a child; Hartnup disease in setting of celiac disease","volume":"14","author":"Ciecierega","year":"2014","journal-title":"BMC Pediatr."},{"issue":"2","key":"10.1016\/j.ibneur.2023.03.010_bib13","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/0887-8994(89)90038-6","article-title":"Intermittent dystonia in Hartnup disease","volume":"5","author":"Darras","year":"1989","journal-title":"Pediatr. Neurol."},{"issue":"1","key":"10.1016\/j.ibneur.2023.03.010_bib14","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s00401-009-0624-y","article-title":"Ependymal cells: biology and pathology","volume":"119","author":"Del Bigio","year":"2010","journal-title":"Acta Neuropathol."},{"issue":"5","key":"10.1016\/j.ibneur.2023.03.010_bib15","first-page":"1026","article-title":"Hartnup disease: MR findings","volume":"12","author":"Erly","year":"1991","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"1","key":"10.1016\/j.ibneur.2023.03.010_bib16","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1042\/BJ20120307","article-title":"Intestinal peptidases form functional complexes with the neutral amino acid transporter B(0)AT1","volume":"446","author":"Fairweather","year":"2012","journal-title":"Biochem. J."},{"issue":"2","key":"10.1016\/j.ibneur.2023.03.010_bib17","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1136\/adc.56.2.146","article-title":"Familial pellagra-like skin rash with neurological manifestations","volume":"56","author":"Freundlich","year":"1981","journal-title":"Arch. Dis. Child."},{"issue":"1","key":"10.1016\/j.ibneur.2023.03.010_bib18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s41580-021-00418-x","article-title":"Mechanisms of SARS-CoV-2 entry into cells","volume":"23","author":"Jackson","year":"2022","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"10.1016\/j.ibneur.2023.03.010_bib19","doi-asserted-by":"crossref","DOI":"10.3389\/fmolb.2022.897929","article-title":"Systemic tryptophan homeostasis","volume":"9","author":"Klaessens","year":"2022","journal-title":"Front. Mol. Biosci."},{"issue":"9","key":"10.1016\/j.ibneur.2023.03.010_bib20","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng1405","article-title":"Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder","volume":"36","author":"Kleta","year":"2004","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ibneur.2023.03.010_bib21","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.tips.2004.12.003","article-title":"Hartnup disorder: unraveling the mystery","volume":"26","author":"Kraut","year":"2005","journal-title":"Trends Pharm. Sci."},{"issue":"9","key":"10.1016\/j.ibneur.2023.03.010_bib22","doi-asserted-by":"crossref","first-page":"2137","DOI":"10.1021\/acs.jproteome.2c00184","article-title":"Protein expression profile of ACE2 in the normal and COVID-19-affected human brain","volume":"21","author":"Lindskog","year":"2022","journal-title":"J. Proteome Res."},{"issue":"5","key":"10.1016\/j.ibneur.2023.03.010_bib23","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1007\/s40519-020-00963-y","article-title":"COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption","volume":"26","author":"Nisoli","year":"2021","journal-title":"Eat. Weight Disord."},{"issue":"1","key":"10.1016\/j.ibneur.2023.03.010_bib24","doi-asserted-by":"crossref","first-page":"G128","DOI":"10.1152\/ajpgi.00017.2011","article-title":"Amino acid absorption and homeostasis in mice lacking the intestinal peptide transporter PEPT1","volume":"301","author":"N\u00e4ssl","year":"2011","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"issue":"12","key":"10.1016\/j.ibneur.2023.03.010_bib25","doi-asserted-by":"crossref","first-page":"2459","DOI":"10.1002\/ajmg.a.61357","article-title":"Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease","volume":"179","author":"Pillai","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"issue":"6385","key":"10.1016\/j.ibneur.2023.03.010_bib26","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1126\/science.aam8999","article-title":"Single-cell profiling of the developing mouse brain and spinal cord with split-pool barcoding","volume":"360","author":"Rosenberg","year":"2018","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.ibneur.2023.03.010_bib27","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/j.cell.2018.07.028","article-title":"Molecular diversity and specializations among the cells of the adult mouse brain","volume":"174","author":"Saunders","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.ibneur.2023.03.010_bib28","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.neuroscience.2015.08.034","article-title":"Genomic approach to selective vulnerability of the hippocampus in brain ischemia-hypoxia","volume":"309","author":"Schmidt-Kastner","year":"2015","journal-title":"Neuroscience"},{"issue":"12","key":"10.1016\/j.ibneur.2023.03.010_bib29","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1007\/BF01954126","article-title":"Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study","volume":"151","author":"Schmidtke","year":"1992","journal-title":"Eur. J. Pediatr."},{"issue":"23","key":"10.1016\/j.ibneur.2023.03.010_bib30","doi-asserted-by":"crossref","first-page":"e207","DOI":"10.1182\/blood-2010-10-314427","article-title":"High-resolution genome-wide mapping of HIF-binding sites by ChIP-seq","volume":"117","author":"Sch\u00f6del","year":"2011","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.ibneur.2023.03.010_bib31","first-page":"401","article-title":"The Hartnup phenotype: Mendelian transport disorder, multifactorial disease","volume":"40","author":"Scriver","year":"1987","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.ibneur.2023.03.010_bib32","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/ng1406","article-title":"Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19","volume":"36","author":"Seow","year":"2004","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.ibneur.2023.03.010_bib33","doi-asserted-by":"crossref","first-page":"410","DOI":"10.4161\/chan.5.5.16470","article-title":"Collectrin and ACE2 in renal and intestinal amino acid transport","volume":"5","author":"Singer","year":"2011","journal-title":"Channels"},{"issue":"12","key":"10.1016\/j.ibneur.2023.03.010_bib34","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1001\/archneur.1976.00500120001001","article-title":"Hartnup disease. Clinical, pathological, and biochemical observations","volume":"33","author":"Tahmoush","year":"1976","journal-title":"Arch. Neurol."},{"issue":"23","key":"10.1016\/j.ibneur.2023.03.010_bib35","doi-asserted-by":"crossref","first-page":"4409","DOI":"10.1016\/j.cell.2022.10.009","article-title":"Genomic architecture of autism from comprehensive whole-genome sequence annotation","volume":"185","author":"Trost","year":"2022","journal-title":"Cell"},{"key":"10.1016\/j.ibneur.2023.03.010_bib36","article-title":"Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy","author":"Wang","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"issue":"11","key":"10.1016\/j.ibneur.2023.03.010_bib37","doi-asserted-by":"crossref","first-page":"4260","DOI":"10.1073\/pnas.0810067106","article-title":"Integrative analysis of HIF binding and transactivation reveals its role in maintaining histone methylation homeostasis","volume":"106","author":"Xia","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"6226","key":"10.1016\/j.ibneur.2023.03.010_bib38","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1126\/science.aaa1934","article-title":"Brain structure. Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq","volume":"347","author":"Zeisel","year":"2015","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.ibneur.2023.03.010_bib39","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/j.1365-4632.2009.03989.x","article-title":"A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder","volume":"48","author":"Zheng","year":"2009","journal-title":"Int. J. Dermatol."},{"key":"10.1016\/j.ibneur.2023.03.010_bib40","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1515\/biol-2018-0003","article-title":"Study of seizure-manifested hartnup disorder case induced by novel mutations in SLC6A19","volume":"13","author":"Zhu","year":"2018","journal-title":"Open Life Sci."}],"container-title":["IBRO Neuroscience Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2667242123000271?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2667242123000271?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T08:14:54Z","timestamp":1757405694000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2667242123000271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":40,"alternative-id":["S2667242123000271"],"URL":"https:\/\/doi.org\/10.1016\/j.ibneur.2023.03.010","relation":{},"ISSN":["2667-2421"],"issn-type":[{"value":"2667-2421","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19","name":"articletitle","label":"Article Title"},{"value":"IBRO Neuroscience Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ibneur.2023.03.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Ltd on behalf of International Brain Research Organization.","name":"copyright","label":"Copyright"}]}}