Molecular analysis of the peroxisome biogenesis disorders

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/123107

Funding Status
Closed

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Funded Activity Summary

A group of human disorders arise from abnormal metabolic function of peroxisomes, small organelles found in the cells of most tissues. These abnormalities are caused by defects in the processes by which peroxisomes are formed in cells, and now known to be due to mutations in peroxisome biogenesis, or PEX, genes. In this project we will identify and assess PEX gene mutations in Australasian patients with these disorders to assist with future clinical diagnosis. In addition, because the mechanisms of disease formation, or pathogenesis, are poorly understood, we will develop animal models of the PBDs that may provide more detailed information about these corresponding processes in humans.

Funded Activity Details

Start Date: 01-01-2000

End Date: 01-01-2002

Funding Scheme: NHMRC Project Grants

Funding Amount: $185,135.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Oral medicine and pathology

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

Mouse model of disease | Mutation analysis | Neurodegenerative diseases | Organ and cell pathology | PEX genes | Peroxisomal disorders | Peroxisome biogenesis disorders | Pre- and post-natal diagnosis

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