Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

doi:10.1038/s41419-024-07096-5

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Article

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Cell death & disease - 27 Sept 2024

Cozzi Marta, Magri Stefania, Tedesco Barbara, Patelli Guglielmo, Ferrari Veronica, Casarotto Elena, Chierichetti Marta, Pramaggiore Paola, Cornaggia Laura, Piccolella Margherita, Galbiati Mariarita, Rusmini Paola, Crippa Valeria, Mandrioli Jessica, Pareyson Davide, Pisciotta Chiara, D'Arrigo Stefano, Ratti Antonia, Nanetti Lorenzo, Mariotti Caterina, Sarto Elisa, Pensato Viviana, Gellera Cinzia, Di Bella Daniela, Cristofani Riccardo M, Taroni Franco, Poletti Angelo

Abstract excerpt

Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key mutants covering the whole spectrum of KIF5A-related phenotypes: spastic paraplegia (SPG, R17Q and R280C), Charcot-Marie-Tooth disease (CMT, R864*), amyotrophic lateral...

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PMID: 39333504
DOI: 10.1038/s41419-024-07096-5
PMCID: PMC11437142

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