Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients

Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients

The heterodimeric kinesin-2 motor (KIF3A/KIF3B with accessory protein KAP3) drives intraflagellar transport, essential for ciliogenesis and ciliary function. Three point mutations in the KIF3B subunit have recently been linked to disease in humans (E250Q and L523P) and Bengal cats (A334T) (Cogné et...

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Bibliographic Details
Main Authors: Jessica M. Adams, Caleb Sawe, Skye Rogers, Jordyn Reid, Ronith Dasari, Martin F. Engelke
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Molecular Biosciences
Subjects:
Kif3B
kinesin-2
ciliogenesis
retina degeneration
ciliopathy
rigor kinesin
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2024.1327963/full

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https://www.frontiersin.org/articles/10.3389/fmolb.2024.1327963/full

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