Proteostasis modulation in inherited blinding disorders

NIH RePORTER · NIH · R01 · $401,458 · view on reporter.nih.gov ↗

Abstract

Title: Proteostasis modulation in inherited blinding disorders. Abstract: Missense mutations of RPE or photoreceptor specific genes often cause inherited blinding disorders. These mutated genes frequently yield protein products that are highly unstable and prone to proteasomal degradation. We recently invented a novel drug discovery strategy and identified a small molecule which can stabilize these mutated protein products. In this project, we will test the therapeutic hypothesis that proteostasis modulation is a viable and general therapeutic strategy for treating inherited blinding disorders caused by such protein destabilizing missense mutations. Currently, no cures or treatments exist for the majority of these blinding disorders. Toward the goal of fulfilling such unmet medical needs, we will study the specificity (Aim1) and mechanism (Aim2) of the proteostasis modulation by our novel small molecule. Moreover, we will prove the concept of the proteostasis modulation therapy using mouse models of severe visual impairment and blindness (Aim3). This study will reveal novel molecular pathways for stabilizing proteins whose loss of functions are associated with inherited disorders. Such pathways will become attractive targets for various therapeutic molecules.

Key facts

NIH application ID
9850971
Project number
5R01EY029680-02
Recipient
CASE WESTERN RESERVE UNIVERSITY
Principal Investigator
Yoshikazu Imanishi
Activity code
R01
Funding institute
NIH
Fiscal year
2020
Award amount
$401,458
Award type
5
Project period
2019-02-01 → 2020-07-14