2016
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 2016, 167: 1481-1494.e18. PMID: 27912058, PMCID: PMC5554935, DOI: 10.1016/j.cell.2016.11.013.Peer-Reviewed Original ResearchConceptsBlood-brain barrierBrain barrierBrain amino acid profilesLarge neutral amino acid transporterAutism spectrum disorderAdult mutant miceBranched-chain amino acid (BCAA) catabolic pathwaySevere neurological abnormalitiesNeutral amino acid transporterIntracerebroventricular administrationNeurological syndromeNeurological abnormalitiesNeurological conditionsSpectrum disorderSLC7A5 geneMotor delayAmino acid transportAmino acid transportersMutant miceNormal levelsBrain functionHuman brain functionEndothelial cellsHomozygous mutationCauses of ASD
2004
KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral Cortex
Guzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Lifton RP, Gunel M. KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral Cortex. Neurosurgery 2004, 54: 943-949. PMID: 15046662, DOI: 10.1227/01.neu.0000114512.59624.a5.Peer-Reviewed Original ResearchMeSH KeywordsAdultAstrocytesBlotting, WesternBrain NeoplasmsCerebral CortexChromosome AberrationsEndothelium, VascularGene Expression Regulation, NeoplasticGenes, DominantHemangioma, CavernousHemangioma, Cavernous, Central Nervous SystemHumansImmunoenzyme TechniquesKRIT1 ProteinMicrotubule-Associated ProteinsProto-Oncogene ProteinsPyramidal CellsConceptsCerebral cavernous malformationsCerebral cortexCavernous malformationsVascular endotheliumCentral nervous system vasculatureAdult human cerebral cortexEndothelial cellsCerebral cavernous malformation lesionsBlood-brain barrierAstrocytic foot processesFamilial cerebral cavernous malformationsHuman cerebral cortexCentral nervous systemAutosomal dominant disorderCerebral angiogenesisPyramidal neuronsPyramidal cellsBlood-organ barriersNervous systemWhite pulpRed pulpIntense stainingWestern blottingFoot processesCardiac myocytes