# Importance of small GTPases in photoreceptor function

> **NIH NIH R01** · WEST VIRGINIA UNIVERSITY · 2024 · $444,925

## Abstract

PROJECT SUMMARY/ABSTRACT
The long-term goal of our research is to identify mechanisms that contribute to the maintenance of
photoreceptor outer segments and vision. In retinal degenerative blinding diseases, loss of ciliated
photoreceptor outer segments precedes the death of photoreceptor neurons. Therefore, a thorough
understanding of the mechanisms behind the stability of the cilia is needed to uncover molecules required for
photoreceptor survival. The specific goal of this proposal is to identify the importance of post-translational
modifications of tubulins in the maintenance of cilia and photoreceptor function. Altered tubulin modifications
are a known cause of human blindness. We will investigate the need for a small GTPase that belongs to the
ARF-like family of proteins, ARL13B, and its role in photoreceptor ciliary maintenance, tubulin modifications,
and function. Our studies will investigate whether altering tubulin modifications will protect photoreceptors
and rescue visual response in various genetic models for retinal degenerative diseases. We will use a
combination of unique animal models, cell culture models, and in vitro biochemical analyses to
comprehensively address the requirement for tubulin modification and their regulation in ciliated
photoreceptors.
Our proposed studies are aligned with the Retinal Diseases Program of the NEI to “Elucidate the molecular
mechanisms that lead to photoreceptor degeneration, including signal transduction pathways, defects in
protein folding, ciliogenesis, functional compartmentalization, or trafficking, and translate these molecular
footholds into therapies for Mendelian and complex diseases.” The findings from the proposed studies have
clinical implications, such as therapy for inherited retinal diseases that lead to blindness.

## Key facts

- **NIH application ID:** 10796871
- **Project number:** 5R01EY028035-06
- **Recipient organization:** WEST VIRGINIA UNIVERSITY
- **Principal Investigator:** Visvanathan Ramamurthy
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $444,925
- **Award type:** 5
- **Project period:** 2017-04-01 → 2028-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10796871

## Citation

> US National Institutes of Health, RePORTER application 10796871, Importance of small GTPases in photoreceptor function (5R01EY028035-06). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10796871. Licensed CC0.

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