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Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function

Dev Dyn. 2020; 
Casey D Gailey, Eric J Wang, Li Jin, Sean Ahmadi, David L Brautigan, Xudong Li, Wenhao Xu, Michael M Scott, Zheng Fu
Products/Services Used Details Operation
Monoclonal Antibody Services … monoclonal antibody (Cell Signaling Technology, Danvers, MA, #8507); KIF3A phospho-Thr672 rabbit polyclonal antibody12,13 (GenScript, Piscataway, NJ); SQSTM1 (D-3) mouse monoclonal antibody (Santa Cruz, Dallas, TX, sc-28359); LC3B (D11) … Get A Quote

摘要

background: Kinesin family member 3A (KIF3A) is a molecular motor protein in the heterotrimeric kinesin-2 complex that drives anterograde intraflagellar transport. This process plays a pivotal role in both biogenesis and maintenance of the primary cilium that supports tissue development. Ciliogenesis associated kinase 1 (CILK1) phosphorylates human KIF3A at Thr672. CILK1 loss of function causes ciliopathies that manifest profound and multiplex developmental defects, including hydrocephalus, polydactyly, shortened and hypoplastic bones and alveoli airspace deficiency, leading to perinatal lethality. Prior studies have raised the hypothesis that CILK1 phosphorylation of KIF3A is critical for its regulation of org... More

关键词

ciliogenesis, ciliopathy, development, kinase, primary cilia