Investigating the pathogenic role of polyalanine tract expansion mutations in the ARX homeobox transcription factor.

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1002732

Funding Status
Closed

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Funded Activity Summary

Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is one of the most frequent genes mutated in X chromosome-linked intellectual disability. Our study will specifically address the functional impact of these mutations in ARX using cell models relevant to the brain. We will also examine the contribution of other genetic changes to explain the very different symptoms seen in patients with the same gene mutation.

Funded Activity Details

Start Date: 01-01-2011

End Date: 01-01-2013

Funding Scheme: NHMRC Project Grants

Funding Amount: $545,619.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Genetics not elsewhere classified

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

X-linked genetic disorders | intellectual disability | olfactory epithelium | pathogenic mechanisms | seizures | trinucleotide repeat disorder | ubiquitin-mediated proteolysis

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