Article
Tubulin CFEOM mutations both inhibit or activate kinesin motor activity.
Molecular biology of the cell - 1 Mar 2024
Luchniak Anna, Roy Pallavi Sinha, Kumar Ambuj, Schneider Ian C, Gelfand Vladimir I, Jernigan Robert L, Gupta Mohan L
Abstract excerpt
Kinesin-mediated transport along microtubules is critical for axon development and health. Mutations in the kinesin Kif21a, or the microtubule subunit β-tubulin, inhibit axon growth and/or maintenance resulting in the eye-movement disorder congenital fibrosis of the extraocular muscles (CFEOM). While most examined CFEOM-causing β-tubulin mutations inhibit kinesin-microtubule interactions, Kif21a mutations...
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