Ontology highlight
ABSTRACT:
SUBMITTER: Yang R
PROVIDER: S-EPMC6660793 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Yang Rui R Walder-Christensen Kathryn K KK Kim Namsoo N Wu Danwei D Lorenzo Damaris N DN Badea Alexandra A Jiang Yong-Hui YH Yin Henry H HH Wetsel William C WC Bennett Vann V
Proceedings of the National Academy of Sciences of the United States of America 20190708 30
Giant ankyrin-B (ankB) is a neurospecific alternatively spliced variant of <i>ANK2</i>, a high-confidence autism spectrum disorder (ASD) gene. We report that a mouse model for human ASD mutation of giant ankB exhibits increased axonal branching in cultured neurons with ectopic CNS axon connectivity, as well as with a transient increase in excitatory synapses during postnatal development. We elucidate a mechanism normally limiting axon branching, whereby giant ankB localizes to periodic axonal pl ...[more]