Investigating the pathogenic mechanisms of mutations in the ARX homeobox transcription factor

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/1063025

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. The cost to Australia of intellectual disability is estimated at $14 billion annually. 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 using cell models relevant to the brain to better understand the pathways and networks required for normal cognition.

Funded Activity Details

Start Date: 01-01-2014

End Date: 01-01-2017

Funding Scheme: Project Grants

Funding Amount: $596,222.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Neurogenetics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

X linked disorder | adult stem cells | intellectual disability | mouse models | pathogenic mechanisms | protein phosphorylation | seizures | systematic evolution of ligands by exponential enrichment (SELEX) | transcriptional regulation | trinucleotide repeat disorder

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