Article

Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor Sema 3A

2021-05-03

Abstract excerpt

Variants in the high confident autism spectrum disorder gene ANK2 target both ubiquitously expressed 220-kDa ankyrin-B and neurospecific 440-kDa ankyrin-B (AnkB440) isoforms. Previous work showed that knock-in mice expressing an ASD-linked Ank2 variant yielding a truncated AnkB440 product exhibit ectopic brain connectivity and behavioral abnormalities. Expression of this variant or loss of AnkB440 caused axonal...

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Literature Corpus work: 58f2ab39-92fa-538c-bba2-c232799b12b9
DOI: 10.1101/2021.05.03.442401

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