Meredith J. Layton

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Inherited deficiency of triose phosphate isomerase (TPI), the enzyme that catalyses the interconversion of dihydroxyacetone phosphate (DHAP) and glyceraldehyde-3-phosphate, is characterised by an accumulation of intracellular DHAP and markedly reduced enzyme activity in cells and tissues, resulting in progressive, usually fatal neuromuscular dysfunction.(More)
Oncogenic mutations in PIK3CA lead to an increase in instrinsic phosphoinositide kinase activity, but it is thought that increased access of PI3Kα to its plasma membrane localised substrate is also required for increased levels of downstream PIP3/Akt signalling. We have studied the subcellular localisation of wild type and the two most common oncogenic(More)
First-trimester prenatal diagnosis was undertaken by chorionic villus DNA analysis in a Spanish family with the inherited Glu104Asp triose-phosphate isomerase deficiency. The fetus was heterozygous for the mutation and therefore predicted to be clinically unaffected. To investigate the evolutionary origin of this mutation, studies were conducted on the(More)
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