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
2010
The critical role of hemodynamics in the development of cerebral vascular disease.
Nixon AM, Gunel M, Sumpio BE. The critical role of hemodynamics in the development of cerebral vascular disease. Journal Of Neurosurgery 2010, 112: 1240-53. PMID: 19943737, DOI: 10.3171/2009.10.jns09759.Peer-Reviewed Original ResearchConceptsCerebral vascular diseaseVascular diseaseUnique hemodynamic conditionsExtracranial atherosclerosisArtery diseaseIntracranial atherosclerosisIntracranial saccular aneurysmsTreatment optionsVascular disordersHemodynamic parametersAneurysm formationSaccular aneurysmHemodynamic conditionsNormal levelsVascular biologyDiseaseMultiple studiesMore studiesPatient-specific dataAtherosclerosisHemodynamicsMagnitude of WSSRiskLow wall shear stressDisorders