{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:27:36Z","timestamp":1790486856369,"version":"4.1.0"},"reference-count":56,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Allen and Jewel Prince Center for Neurodegenerative Diseases"},{"name":"Israel Ministry of Health"},{"name":"Laura and Isaac Perlmutter Metabolomics Center"},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01NS098740"],"award-info":[{"award-number":["R01NS098740"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["SNF 310030_215134"],"award-info":[{"award-number":["SNF 310030_215134"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Joint Program on Rare Diseases","award":["EJP RD + SNF 32ER30_187505"],"award-info":[{"award-number":["EJP RD + SNF 32ER30_187505"]}]},{"name":"COST Action 19105-Pan-European Network in Lipidomics and EpiLipidomics"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in the SLC1A4 transporter lead to neurodevelopmental impairments, spastic tetraplegia, thin corpus callosum and microcephaly in children. SLC1A4 catalyses obligatory amino acid exchange between neutral amino acids, but the physiopathology of SLC1A4 disease mutations and progressive microcephaly remain unclear.<\/jats:p>\n               <jats:p>Here, we examined the phenotype and metabolic profile of three Slc1a4 mouse models: a constitutive Slc1a4-knockout mouse; a knock-in mouse with the major human Slc1a4 mutation (Slc1a4-K256E); and a selective knockout of Slc1a4 in brain endothelial cells (Slc1a4tie2-cre).<\/jats:p>\n               <jats:p>We show that Slc1a4 is a bona fideL-serine transporter at the blood\u2013brain barrier (BBB) and that acute inhibition or deletion of Slc1a4 leads to a decrease in serine influx into the brain. This results in microcephaly associated with decreased L-serine content in the brain, accumulation of atypical and cytotoxic 1-deoxysphingolipids, neurodegeneration, synaptic and mitochondrial abnormalities and behavioural impairments. Prenatal and early postnatal oral administration of L-serine at levels that replenish the serine pool in the brain rescued the observed biochemical and behavioural changes. Administration of L-serine until the second postnatal week also normalized brain weight in Slc1a4-E256K mice.<\/jats:p>\n               <jats:p>Our observations suggest that the transport of \u2018non-essential\u2019 amino acids from the blood through the BBB is at least as important as that of essential amino acids for brain metabolism and development. We propose that SLC1A4 mutations cause a BBB aminoacidopathy with deficits in serine import across the BBB, required for optimal brain growth, leading to a metabolic microcephaly, which may be amenable to treatment with L-serine.<\/jats:p>","DOI":"10.1093\/brain\/awae134","type":"journal-article","created":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T17:48:41Z","timestamp":1714067321000},"page":"3874-3889","source":"Crossref","is-referenced-by-count":14,"title":["A new type of blood\u2013brain barrier aminoacidopathy underlies metabolic microcephaly associated with <i>SLC1A4<\/i> mutations"],"prefix":"10.1093","volume":"147","author":[{"given":"Maali","family":"Odeh","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Inst of Technology , Haifa 3109601 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Sajrawi","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Inst of Technology , Haifa 3109601 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Majcher","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry, University of Zurich and University Hospital Zurich , Zurich 8091 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salman","family":"Zubedat","sequence":"additional","affiliation":[{"name":"Department of Occupational Therapy, Faculty of Social Welfare and Health Sciences, University of Haifa , Haifa 3498838 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihi","family":"Shaulov","sequence":"additional","affiliation":[{"name":"Electron Microscopy Unit, B. Rappaport Faculty of Medicine, Technion-Israel Inst of Technology , Haifa 3109601 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Radzishevsky","sequence":"additional","affiliation":[{"name":"Sonoworx Co. , Haifa 3473113 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liron","family":"Mizrahi","sequence":"additional","affiliation":[{"name":"Biosense Webster , Yokneam 2066717 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avi","family":"Avital","sequence":"additional","affiliation":[{"name":"Department of Occupational Therapy, Faculty of Social Welfare and Health Sciences, University of Haifa , Haifa 3498838 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4218-1087","authenticated-orcid":false,"given":"Thorsten","family":"Hornemann","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry, University of Zurich and University Hospital Zurich , Zurich 8091 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5851-5363","authenticated-orcid":false,"given":"Daniel J","family":"Liebl","sequence":"additional","affiliation":[{"name":"The Miami Project to Cure Paralysis, Department of Neurosurgery, University of Miami Miller School of Medicine , Miami, FL, 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna","family":"Radzishevsky","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Inst of 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