Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
自闭症基因KATNAL2的致病变异会导致脑积水,并通过损害纤毛微管动力学来破坏神经元连接。
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.2314702121
DeSpenza, Tyrone Jr; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L; Desmet, Nicole; Dang, Huy Q; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y; Dennis, Evan; Mehta, Neel H; Duy, Phan Q; Shimelis, Hermela; Walsh, Lauren K; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M R; Constable, R Todd; Hoffman, Ellen J; Lifton, Richard P; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L; Jin, Sheng Chih; Kahle, Kristopher T; Luikart, Bryan W