# Photoreceptor Disk Formation and Retinal Degenerations

> **NIH NIH R01** · UNIVERSITY OF ALABAMA AT BIRMINGHAM · 2022 · $36,680

## Abstract

Project Summary/Abstract – Parent R01
One of the most fundamental processes in molecular neuroscience and cell biology is the proper assembly of
signal-transducing membranes including the transport and sorting of protein components. A major cause of
retinal degenerations and other inherited disorders is the improper localization of proteins and organization of
lipids. The overall goal of this study is to understand the cellular mechanisms involved in regulation of the
cytoskeletal network that underpins protein and organelle localization and photoreceptor disk formation.
Mutations in genes encoding proteins found in photoreceptor disks often induce abnormal disk formation
resulting in retinal degeneration and manifest as blinding diseases such as retinitis pigmentosa or Leber’s
congenital amaurosis. Our long-term goal is to understand the mechanisms required for polarized
photoreceptor cell growth and maintenance, two processes that require protein trafficking across the cilium.
We have recently found that a regulator of dynein-mediated movement in proliferating or dividing cells, nuclear
distribution protein C (NUDC), has a critical function in photoreceptor disk assembly and maintenance. This is
a novel role for this developmental protein in non-motile post-mitotic photoreceptor cells. Our preliminary
results strongly indicate NUDC is involved in a molecular pathway that regulates and maintains the F-actin
architecture necessary for disk structure, including the proteins cofilin1 and heat shock protein 90 (HSP90).
Our data show NUDC regulates cofilin1 (CFL1) to maintain the F-actin architecture necessary for disk
structure. Our preliminary data also show that NUDC affects mitochondria size and localization within the inner
segment of rod cells, most likely due to NUDC’s regulation of the microtubule network in these cells. In
addition, we have identified a novel role of NUDC as a neuroprotective agent in retinal degenerations, most
likely through the inhibition of HSP90.

## Key facts

- **NIH application ID:** 10513271
- **Project number:** 3R01EY030096-02S1
- **Recipient organization:** UNIVERSITY OF ALABAMA AT BIRMINGHAM
- **Principal Investigator:** Alecia K Gross
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $36,680
- **Award type:** 3
- **Project period:** 2021-12-01 → 2024-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10513271

## Citation

> US National Institutes of Health, RePORTER application 10513271, Photoreceptor Disk Formation and Retinal Degenerations (3R01EY030096-02S1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10513271. Licensed CC0.

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