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One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases.

Cell communication and signaling : CCS - 16 Jun 2025

Cozzi Marta, Tedesco Barbara, Ferrari Veronica, Chierichetti Marta, Pramaggiore Paola, Cornaggia Laura, Magdalena Rocio, Brodnanova Maria, Mohamed Ali, Milioto Carmelo, Piccolella Margherita, Galbiati Mariarita, Rusmini Paola, Crippa Valeria, Gellera Cinzia, Magri Stefania, Taroni Franco, Cristofani Riccardo, Poletti Angelo

Abstract excerpt

Kinesin family member 5 A (KIF5A) is a neuron-specific molecular motor involved in anterograde transport. KIF5A mediates a wide range of trafficking processes that are only partially shared with the other members of the KIF5 family. Since 2002, several disease-causing mutations have been found in the KIF5A gene and a link between the specific domain in the encoded protein affected by mutations and the associated...

Topics

Humans
Kinesins
Phenotype
Animals
Neurodevelopmental Disorders
Neurodegenerative Diseases
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40524150
DOI: 10.1186/s12964-025-02277-x
PMCID: PMC12172243

Genes

KIF5A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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