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Article

Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.

The Journal of cell biology - 2 Nov 2026

Aiken Jayne, Borland Carris, Marotta Nicolas, Prosser Benjamin L, Holzbaur Erika L F

Abstract excerpt

The nervous system relies on billions of neurons connected through trillions of synapses to support vital functions. Despite the importance of this synaptic network, cellular mechanisms dictating synapse formation during human neurodevelopment remain unclear. Long-distance trafficking by the microtubule motor KIF1A is crucial for synaptogenesis and downstream synapse maintenance. Mutations in KIF1A cause...

Read the complete abstract on PubMed

Topics

Kinesins
Humans
Synapses
Neurodevelopment
Axons
Axonal Transport
Neurons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Induced Pluripotent Stem Cells

Neurogenesis

Neuronal Outgrowth

Synaptic Vesicles

Microtubules

Source

Open in PubMed Open full text

Identifiers

PMID: 42704317
DOI: 10.1083/jcb.202601034
PMCID: PMC13552237

Genes

KIF1A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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