Mini-review: Synaptojanin 1 and Its Implications in Membrane Trafficking

Overview

Journal Neurosci Lett

Specialty Neurology

Date 2021 Oct 12

PMID 34637856

Citations 17

Authors

Hassaam Choudhry

Meha Aggarwal

Ping-Yue Pan

Affiliations

Soon will be listed here.

Abstract

This mini-review aims to summarize a growing body of literature on synaptojanin 1 (Synj1), a phosphoinositide phosphatase that was initially known to have a prominent role in synaptic vesicle recycling. Synj1 is coded by the SYNJ1 gene, whose mutations and variants are associated with an increasing number of neurological disorders. To better understand the mechanistic role of Synj1 in disease pathogenesis, we review details of phosphoinositide signaling pathways and the reported involvement of Synj1 in membrane trafficking with a specific focus on Parkinson's disease (PD). Recent studies have tremendously advanced our understanding of Synj1 protein structure and function while broadening our view of how Synj1 regulates synaptic membrane trafficking and endosomal trafficking in various organisms and cell types. A growing body of evidence points to inefficient membrane trafficking as key pathogenic mechanisms in neurodegenerative diseases associated with abnormal Synj1 expression. Despite significant progress made in the field, the mechanism by which Synj1 connects to trafficking, signaling, and pathogenesis is lacking and remains to be addressed.

Citing Articles

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Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?.

Senkevich K, Parlar S, Chantereault C, Yu E, Ahmad J, Ruskey J NPJ Parkinsons Dis. 2024; 10(1):201.

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Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.

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Parkinson's disease gene, Synaptojanin1, dysregulates the surface maintenance of the dopamine transporter.

Saenz J, Khezerlou E, Aggarwal M, Shaikh A, Ganti N, Herborg F NPJ Parkinsons Dis. 2024; 10(1):148.

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Are rare heterozygous variants associated with Parkinson's disease?.

Senkevich K, Parlar S, Chantereault C, Yu E, Ahmad J, Ruskey J medRxiv. 2024; .

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