# Molecular mechanisms of spectrin-dependent axonal organization and function in cerebellar granule cells

> **NIH NIH F31** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2024 · $36,954

## Abstract

PROJECT SUMMARY
βII-spectrin (encoded by SPTBN1), is a ubiquitous component of the submembrane neuronal cytoskeleton. βII-
spectrin binds F-actin and ankyrins to organize complex networks of ion channels, membrane transporters and
cell adhesion molecules. βII-spectrin also promotes bidirectional transport of organelles and vesicles. Our lab
recently reported de novo SPTBN1 variants as the genetic cause of a developmental delay syndrome that is
comorbid with intellectual disability, autism spectrum disorder, ADHD, and seizures. However, the neuron types
and brain circuits most vulnerable to deficits in βII-spectrin function and their specific contribution to the diverse
neurological presentations are not fully elucidated. My preliminary studies indicate that βII-spectrin plays
important roles in modulating cerebellar function and that cerebellar dysfunction may contribute to the SPTBN1
syndrome. To begin to unravel the roles of βII-spectrin in the cerebellum, I will focus on investigating its function
in cerebellar granule cells by determining how βII-spectrin promotes: 1) the organization of excitable axonal
domains and 2) axonal organelle dynamics.

## Key facts

- **NIH application ID:** 10892025
- **Project number:** 5F31NS129292-02
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** Reginald James Edwards
- **Activity code:** F31 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $36,954
- **Award type:** 5
- **Project period:** 2023-08-01 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10892025

## Citation

> US National Institutes of Health, RePORTER application 10892025, Molecular mechanisms of spectrin-dependent axonal organization and function in cerebellar granule cells (5F31NS129292-02). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10892025. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*