Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome
Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA. Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. Biological Psychiatry 2013, 75: 215-222. PMID: 23896203, PMCID: PMC3874268, DOI: 10.1016/j.biopsych.2013.06.013.Peer-Reviewed Original ResearchConceptsVitamin EPregnant female miceTransgenic mouse modelSLOS patientsPatient cell culturesSmith-LemliOpitz syndromeQuantitative polymerase chain reactionAntioxidant mixturePolymerase chain reactionFemale miceAntioxidant supplementationMouse modelRodent modelsGlial culturesAntioxidant treatmentVitamin AActive oxysterolsMolecular deficitsCoenzyme Q10Liver tissueWestern blotInborn errorsMaternal feedingLiquid chromatography-tandem mass spectrometryBehavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith–Lemli–Opitz syndrome
Korade Z, Folkes OM, Harrison FE. Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith–Lemli–Opitz syndrome. Pharmacology Biochemistry And Behavior 2013, 106: 101-108. PMID: 23541496, DOI: 10.1016/j.pbb.2013.03.007.Peer-Reviewed Original ResearchConceptsWild-type control miceMonths of ageControl miceHead-twitch responseSevere behavioral deficitsSocial dominance tube testSmith-LemliOpitz syndromeHET miceSerotonergic systemBehavioral deficitsSpectrum disorderBehavioral disturbancesMouse modelAgonist 1Behavioral testingUnderlying dysfunctionHuman patientsLocomotor activityNew treatmentsCholesterol synthesisMiceMolecular pathophysiologyUnfamiliar mouseDimethoxy-4