grant

Investigating the pathogenic role of polyalanine tract expansion mutations in the ARX homeobox transcription factor. [ 2011 - 2013 ]

Also known as: Expanded polyalanine tract mutations in ARX and intellectual disability.

Funded by National Health and Medical Research Council
Managed by University of Adelaide
Provided by   National Health and Medical Research Council

Research Grant

[Cite as https://purl.org/au-research/grants/nhmrc/1002732]

Researchers: A/Pr Cheryl Shoubridge (Principal investigator)

Brief description 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.

Funding Amount $AUD 545,619.63

Funding Scheme NHMRC Project Grants

Notes New Investigator Grant

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Subjects
Biological Sciences | Genetics | Genetics Not Elsewhere Classified | X-linked genetic disorders | intellectual disability | olfactory epithelium | pathogenic mechanisms | seizures | trinucleotide repeat disorder | ubiquitin-mediated proteolysis |
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