Article
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
American journal of human genetics - 3 Nov 2022
Khalaf-Nazzal Reham, Fasham James, Inskeep Katherine A, Blizzard Lauren E, Leslie Joseph S, Wakeling Matthew N, Ubeyratna Nishanka, Mitani Tadahiro, Griffith Jennifer L, Baker Wisam, Al-Hijawi Fida', Keough Karen C, Gezdirici Alper, Pena Loren, Spaeth Christine G, Turnpenny Peter D, Walsh Joseph R, Ray Randall, Neilson Amber, Kouranova Evguenia, Cui Xiaoxia, Curiel David T, Pehlivan Davut, Akdemir Zeynep Coban, Posey Jennifer E, Lupski James R, Dobyns William B, Stottmann Rolf W, Crosby Andrew H, Baple Emma L
Abstract excerpt
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family of molecules. Using exome sequencing on samples from five unrelated families, we show that bi-allelic CAMSAP1 loss-of-function variants cause a clinically...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.