PYROXD1 - A novel myopathy disease gene identifies a redox pathway essential for life

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/GNT1143901

Funding Status
Closed

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Funded Activity Summary

An Australian family with a rare myopathy has led to the discovery of a new gene called PYROXD1; a gene that all cells need to survive. PYROXD1 plays a critical role in protecting cells from oxidative stress. We are using patient samples and mouse models to find out what PYROXD1 does that is vital for cell and animal life. We will test whether redox therapies developed for neurodegenerative disorders might help patients with rare neuromuscular disorders, for whom there are no treatment options.

Funded Activity Details

Start Date: 01-01-2018

End Date: 01-01-2022

Funding Scheme: Project Grants

Funding Amount: $1,247,992.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurology and Neuromuscular Diseases

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

mouse models | myopathy | neurodegeneration | protein aggregation | redox regulation

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