grant

Investigating the pathogenic mechanisms of mutations in the ARX homeobox transcription factor [ 2014 - 2017 ]

Also known as: How do genetic mutations in ARX contribute to 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/1063025]

Researchers: A/Pr Cheryl Shoubridge (Principal investigator) ,  Dr Gaëlle Friocourt

Brief description 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.

Funding Amount $AUD 596,222.93

Funding Scheme Project Grants

Notes Standard Project Grant

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Subjects
Biological Sciences | Genetics | Neurogenetics | 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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