Article

Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt Bridge

2025-08-30

Abstract excerpt

Pathogenic variants in the motor domain of the kinesin-3 motor protein KIF1A cause a range of neurodevelopmental and neurodegenerative conditions collectively termed KIF1A-associated neurological disorder (KAND). Among these, mutations at residue R350 are linked to hereditary spastic paraplegia and altered motor function. Yet, the structural basis for their pathogeny remains unclear. Here, we present high-resoluti...

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Literature Corpus work: ebba8f18-0147-53a1-8ab6-eb8f724ee1e6
DOI: 10.1101/2025.08.30.673262

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