Browsing by Author "Patel, D."
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- In silico versus in vitro analysis of LDLR mutationsPublication . Alves, A.C.; Silva, S.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.The LDL receptor (LDLR) is a glycoprotein that mediates binding and internalization of cholesterol-rich lipoproteins from plasma. Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in impaired catabolism of circulating LDL. This common autosomal inherited metabolism disorder leads to premature atherosclerosis and increased risk of CHD. Many different mutations (currently more than 1300) have been identified in FH patients, but not all give rise to a defective LDLR.
- In vitro functional characterization of missense mutations in the LDLR genePublication . Silva, S.; Alves, A.C.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.Mutations in the LDL receptor gene are the major cause of familial hypercholesterolaemia (FH) but it has been previously shown that the simple finding of a variation in the coding sequence of the LDLR does not confirm that it is the actual cause of FH. The pathogenicity of five missense alterations in the LDLR gene coding sequence found in a previous epidemiologic study was investigated.