Article
De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors.
Proceedings of the National Academy of Sciences of the United States of America - 9 Aug 2022
Anazawa Yuzu, Kita Tomoki, Iguchi Rei, Hayashi Kumiko, Niwa Shinsuke
Abstract excerpt
KIF1A is a kinesin superfamily motor protein that transports synaptic vesicle precursors in axons. Cargo binding stimulates the dimerization of KIF1A molecules to induce processive movement along microtubules. Mutations in human Kif1a lead to a group of neurodegenerative diseases called KIF1A-associated neuronal disorder (KAND). KAND mutations are mostly de novo and autosomal dominant; however, it is unknown if...
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