Mechanistic Investigation of Genotype-Phenotype Correlations in PIK3R1-Related Diseases
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Abstract
The PIK3R1 gene encodes three proteins - p85
Initial studies of purified wildtype or mutant PI3K complexes, utilising a modified PI3K fluorescence polarisation lipid kinase assay, established that SHORT syndrome-associated p85
To examine the effect of SHORT syndrome-associated p85
The final part of this thesis focussed on a PIK3R1 exon skipping mutant (p85
Collectively, the data presented in this thesis contributes to the developing knowledge of PIK3R1-related diseases. In particular, these studies provided novel insights into the biochemical and molecular mechanisms of SHORT syndrome-associated p85