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Article

Pathogenic KIF1A R350 mutations disrupt a conserved and conformation-dependent kinesin-tubulin salt bridge.

Nature communications - 31 Mar 2026

Shatarupa Abhipsa, Rao Lu, Asenjo Ana B, Gennerich Arne, Sosa Hernando

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 pathogenicity remains unclear. Here, we present...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41912506
DOI: 10.1038/s41467-026-71026-6
PMCID: PMC13254124

Genes

KIF1A
PNP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Pathogenic KIF1A R350 mutations disrupt a conserved and conformation-dependent kinesin-tubulin salt bridge.PMID 41912506Read ↗

Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt BridgeSemantic proximity Read ↗

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