SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Arkaprava RoychaudhuryYu-Ri LeeTae-Ik ChoiMervyn G ThomasTahir N KhanHammad YousafCindy SkinnerGail MaconachieMoira CrosierHolli HorakCris S ConstantinescuTae-Yoon KimKang-Han LeeJae-Jun KyungTao WangBonsu KuBernard N ChodirkerMichael F HammerIrene GottlobWilliam H J NortonRobert GerlaiHyung-Goo KimClaudio GrazianoTommaso PippucciEmanuela IovinoFrancesca MontanariGiulia SeveriCamilo ToroElizabeth M J LeeHyo Sun ChaCheol Yong ChoiSungjin KimJe-Hyun YoonKelly GilmoreNeeta L VoraErica E DavisAlbert E ChudleyCharles E SchwartzCheol-Hee Kim

Published in: Annals of neurology (2024)

Overall, these results suggest a crucial role of SRPK3 in the pathogenesis of syndromic X-linked intellectual disability and provide new insights into brain development, cognitive and ocular dysfunction in both humans and zebrafish. ANN NEUROL 2024.

Keyphrases

intellectual disability
autism spectrum disorder
oxidative stress
white matter
resting state
blood brain barrier
cerebral ischemia
optical coherence tomography