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

Autor: Roychaudhury, Arkaprava, Lee, Yu‐Ri, Choi, Tae‐Ik, Thomas, Mervyn G., Khan, Tahir N., Yousaf, Hammad, Skinner, Cindy, Maconachie, Gail, Crosier, Moira, Horak, Holli, Constantinescu, Cris S., Kim, Tae‐Yoon, Lee, Kang‐Han, Kyung, Jae‐Jun, Wang, Tao, Ku, Bonsu, Chodirker, Bernard N., Hammer, Michael F., Gottlob, Irene, Norton, William H. J.

Publikováno v: Annals of Neurology; Nov2024, Vol. 96 Issue 5, p914-931, 18p

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.

Autor: Lee YR; Department of Biology, Chungnam National University, Daejeon 34134, South Korea.; KM Convergence Research Division, Korea Institute of Oriental Medicine, Daejeon 34054, South Korea.; These authors contributed equally: Yu-Ri Lee, Mervyn G. Thomas, Arkaprava Roychaudhury., Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.; These authors contributed equally: Yu-Ri Lee, Mervyn G. Thomas, Arkaprava Roychaudhury., Roychaudhury A; Department of Biology, Chungnam National University, Daejeon 34134, South Korea.; These authors contributed equally: Yu-Ri Lee, Mervyn G. Thomas, Arkaprava Roychaudhury., Skinner C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Maconachie G; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.; Division of Ophthalmology and Orthoptics, Health Science School, University of Sheffield, UK., Crosier M; Human Developmental Biology Resource, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 4EP, UK., Horak H; Department of Neurology, University of Arizona, Tucson, AZ 85724, USA., Constantinescu CS; Academic Unit of Mental Health and Clinical Neuroscience, University of Nottingham, NG7 2UH, UK.; Cooper Neurological Institute and Cooper Medical School of Rowan University, Camden, NJ 08013, USA., Choi TI; Department of Biology, Chungnam National University, Daejeon 34134, South Korea., Kyung JJ; Department of Biology, Chungnam National University, Daejeon 34134, South Korea., Wang T; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA., Ku B; Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon 34141, South Korea., Chodirker BN; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada., Hammer MF; BIO5 Institute, University of Arizona, Tucson, AZ 85721, USA., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK.; Cooper Neurological Institute and Cooper Medical School of Rowan University, Camden, NJ 08013, USA., Norton WHJ; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK., Chudley AE; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada., Schwartz CE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI 49503, USA., Kim CH; Department of Biology, Chungnam National University, Daejeon 34134, South Korea.

Publikováno v: Research square [Res Sq] 2023 Mar 20. Date of Electronic Publication: 2023 Mar 20.