Association of Bassoon (BSN) Gene Mutations with Gait and Motor Impairments in Parkinson's Disease https://www.medrxiv.org/content/10.1101/2025.08.10.25333397v1
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Many recent studies associate Bassoon with neurological diseases. Case reports and genetic studies link Bassoon variants to disorders like epilepsy, PSP, and PD.
However, the mechanistic understanding of Bassoon's role in pathology is in its infancy.
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The major function of the scaffolding protein Bassoon is in enabling high frequency neurotransmitter release through synaptic vesicle reloading. Bassoon is also involved in the transport of presynaptic proteins to the bouton and in maintaining proteostasis.
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