Intellectual disability, neurological disorders, molecular and cellular biology

Mutations in the gene encoding zDHHC9 cause mild-to-moderate intellectual disability with seizures, speech and language impairment, and a reduction in corpus callosum volume. We have undertaken extensive behavioural phenotyping and magnetic resonance imaging analysis of Zdhhc9 knockout mice. The results obtained support the utility of this Zdhhc9 mutant mouse line to investigate molecular and cellular changes linked to intellectual disability. This project will use arrange of biochemical, chemical biology and cell imaging approaches to identify the molecular and cellular processes that are disrupted in Zdhhc9 mutant mice. The results from these analyses will provide a new insight into development of intellectual disability, and in the longer-term may highlight new treatments for this disorder.

cell culture, chemical biology (e.g. click chemistry), biochemistry (SDS-PAGE, immunoblotting, purification methods), molecular biology (cloning, mutagenesis), confocal microscopy

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2.    Baker, K., et al (2015). Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. Ann. Clin. Transl. Neurol. 2, 559-569.