# The Role of SYNJ1 in Dysregulating the Basal Ganglia Function

> **NIH NIH R01** · RBHS-ROBERT WOOD JOHNSON MEDICAL SCHOOL · 2020 · $71,672

## Abstract

Project Summary
Regulated synaptic transmission is essential in maintaining the proper function of the brain, and mutations in
synaptic genes are often linked to neurological and neurodegenerative disorders. In the parent grant, we
propose to uncover the molecular and cellular mechanisms of the synaptic gene, SYNJ1 (encoding
synaptojanin1, synj1), in contributing to dysfunction of the basal ganglia for motor control. Missense mutations
in SYNJ1 (known as PARK20) are associated with early-onset atypical Parkinsonism, featured by an impaired
dopaminergic system. However, the mechanism whereby synj1 partial loss-of-function results in the dysfunction
of the dopaminergic pathway in the basal ganglia remains unclear. We hypothesize that loss of SYNJ1
dysregulates important signaling lipids, which results in aberrant calcium channel function, impaired membrane
trafficking and altered dopamine release. This supplement is developed specifically for Jacqueline (Jackie)
Saenz, a graduate student with underrepresented ethnic background, for her PhD thesis work and career
development. It is complimentary to the Aim 3 in the parent grant in investigating how SYNJ1 regulates dopamine
signaling. Jackie will be focusing on analyzing the function and endocytic trafficking of the dopamine transporter
(DAT) in relation to dopamine signaling. She will be using heterologous cells as well as neurons from our newly
developed conditional SYNJ1 deletion mouse to determine that DAT endocytosis and activity are regulated by
the enzymatic domains of synj1 and their downstream lipid signaling pathways. Completion of the study will help
us further understand the role of synj1 in DA signaling and to expose Jackie to a wide range of cutting-edge
research strategies for her future research development.

## Key facts

- **NIH application ID:** 10164973
- **Project number:** 3R01NS112390-02S1
- **Recipient organization:** RBHS-ROBERT WOOD JOHNSON MEDICAL SCHOOL
- **Principal Investigator:** Ping-Yue Pan
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $71,672
- **Award type:** 3
- **Project period:** 2020-07-01 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10164973

## Citation

> US National Institutes of Health, RePORTER application 10164973, The Role of SYNJ1 in Dysregulating the Basal Ganglia Function (3R01NS112390-02S1). Retrieved via AI Analytics 2026-06-07 from https://api.ai-analytics.org/grant/nih/10164973. Licensed CC0.

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