Award
National Institute of Neurological Disorders and Stroke 5R01NS058949-15
Clinical, Genetic, and Cellular Consequences of Mutations In NA,K-ATPase ATP1A3
Recipient
State University of New York at Buffalo, Amherst, NY
Award Amount
$635,579.00
Ceiling
$635,579.00
Awarded
June 09, 2025
Identifier
5R01NS058949-15
Research project funded to study the clinical, genetic, and cellular consequences of ATP1A3 gene mutations, aiming to understand symptom progression and develop treatments for related neurological disorders.
Description
This project aims to investigate the clinical, genetic, and cellular effects of mutations in the ATP1A3 gene, which encodes the neuronal alpha3 subunit of the Na/K pump. The research includes phenotyping patients, validating variants, mechanistic studies, and testing potential treatments. The goal is to develop a comprehensive understanding of symptom progression and identify therapeutic strategies for ATP1A3-related disorders.