Novel lissencephaly-associated DCX variants affect microtubule binding, dynamics, and neuronal migration
Jun-Ru Lin, Ju-Fang Cheng, Yo-Tsen Liu, Ting-Rong Hsu, Kao-Min Lin, Chien Chen, Chia-Ling Lin, Meng-Han Tsai, Jin-Wu Tsai · FENS Forum 2024
Pathogenic variants in DCX on the X chromosome lead to lissencephaly and subcortical band heterotopia (SBH), brain malformations caused by neuronal migration defects. Doublecortin (DCX) binds to microtubules to modulate microtubule polymerization. How pathogenic DCX variants affect these activities remains not fully investigated. Our aim is to examine whether these variants affect microtubule binding and dynamics and develop a verification tool to apply on clinical research. DCX variants were identified using whole exome and Sanger sequencing from six families with lissencephaly/SBH. We examin
ePoster · Neuroscience