Genes and MetabolismDirector of Postgraduate Studies Publications

Sun, X.-M. M., Patel, D. D., Acosta, J.-C. C., Gil, J., Soutar, A. K., Jul. 2011. Premature senescence in cells from patients with autosomal recessive hypercholesterolemia (ARH): Evidence for a role for ARH in mitosis. Arteriosclerosis, thrombosis, and vascular biology, in press. Abstract

Soutar, A. K. (2011). Unexpected roles for PCSK9 in lipid metabolism. Current Opinion in Lipidology, in press. Abstract

Herbert, B., Patel, D., Waddington, S. N., Eden, E. R., McAleenan, A., Sun, X.-M., Soutar, A. K. (2010). Increased secretion of lipoproteins in transgenic mice expressing human d374y pcsk9 under physiological genetic control. Arterioscler Thromb Vasc Biol 30, 1333-1339. Abstract

Bourbon, M., Alves, A. C., Medeiros, A. M., Silva, S. & Soutar, A. K. on behalf of the investigators of the Portuguese FH Study. (2008). Familial hypercholesterolaemia in Portugal. Atherosclerosis 196, 633-642. Abstract

Fasano, T., Sun, X.-M., Patel, D. D. & Soutar, A. K. (2008). Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells. Atherosclerosis, (in the Press). Abstract

Gouni-Berthold, I., Berthold, H. K., Gylling, H., Hallikainen, M., Giannakidou, E., Stier, S., Ko, Y., Patel, D., Soutar, A. K., Seedorf, U., Mantzoros, C. S., Plat, J. & Krone, W. (2008). Effects of ezetimibe and/or simvastatin on LDL receptor protein expression and on LDL receptor and HMG-CoA reductase gene expression: A randomized trial in healthy men. Atherosclerosis 198, 198-207. Abstract | Full text

Bourbon, M., Sun, X.-M. & Soutar, A. K. (2007). A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing. Atherosclerosis 195, e17-e20. Abstract

Eden, E. R., Sun, X.-M., Patel, D. D. & Soutar, A. K. (2007). Adaptor protein Disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolemia. Human Molecular Genetics 16, 2751-2759. Abstract | Full text

Gouni-Berthold, I., Berthold, H. K., Gylling, H., Hallikainen, M., Giannakidou, E., Stier, S., Ko, Y., Patel, D., Soutar, A. K., Seedorf, U., Mantzoros, C. S., Plat, J. & Krone, W. (2007). Effects of ezetimibe and/or simvastatin on LDL receptor protein expression and on LDL receptor and HMG-CoA reductase gene expression: A randomized trial in healthy men. Atherosclerosis, (in the Press). Abstract

Silva, S., Patel, D., Bourbon, M. & Soutar, A. K. (2007). Functional characterization of point mutations in the LDLR gene found in Portuguese patients with clinical diagnosis of familial hypercholesterolaemia. Atherosclerosis Supplement 8, 213-213.

Soutar, A. K. & Naoumova, R. P. (2007). Mechanisms of disease: genetic causes of familial hypercholesterolaemia. Nature Clinical Practice Cardiovascular Medicine 4, 214-225. Abstract | Full text

Tosi, I., Toledo-Leiva, P., Neuwirth, C., Naoumova, R. P. & Soutar, A. K. (2007). Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. Atherosclerosis 194, 102-111. Abstract

Humphries, S. E., Whitall, R. A., Hubbart, C. S., Maplebeck, S., Cooper, J. A., Soutar, A. K., Naoumova, R., Thompson, G. R., Seed, M., Durrington, P. N., Miller, J. P., Betteridge, D. J. B. & Neil, H. A. W. for the Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee (2006). Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. Journal of Medical Genetics 43, 943-949. Abstract

Martin de Llano, J. J., Fuertes, G., Andreu, E. J., Puig, O., Chaves, F. J., Soutar, A. K., Armengod, M.-E. & Knecht, E. (2006). A single point mutation in the low-density lipoprotein receptor switches the degradation of its mature protein from the proteasome to the lysosome. The International Journal of Biochemistry & Cell Biology 38, 1340-1351. Abstract

Naoumova, R. P., Tosi, I., Patel, D., Neuwirth, C., Horswell, S. D., Marais, A. D., van Heyningen, C. & Soutar, A. K. (2005). Severe hypercholesterolaemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response. Arteriosclerosis, Thrombosis, and Vascular Biology 25, 2654-2660. Abstract | Full text

Sun, X.-M., Eden, E. R., Tosi, I., Neuwirth, C. K., Wile, D., Naoumova, R. P. & Soutar, A. K. (2005). Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Human Molecular Genetics 14, 1161-1169. Abstract | Full text

Albrecht, C., Baynes, K., Sardini, A., Schepelmann, S., Eden, E. R., Davies, S. W., Higgins, C. F., Feher, M. D., Owen, J. S. & Soutar, A. K. (2004). Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. Biochimica et Biophysica Acta 1689, 47-57. Abstract

Burden, J. J., Sun, X.-M., Garcia Garcia, A. B. & Soutar, A. K. (2004). Sorting motifs in the intracellular domain of the low density lipoprotein (LDL) receptor interact with a novel domain of sorting nexin-17. The Journal of Biological Chemistry 279, 16237-16245. Abstract | Full text

Knight, B. L. (2004). ATP-binding cassette transporter A1: regulation of cholesterol efflux. Biochemical Society Transactions 32, 124-127. Abstract

Naoumova, R. P., Neuwirth, C., Lee, P., Miller, J. P., Taylor, K. G. & Soutar, A. K. (2004). Autosomal recessive hypercholesterolaemia: long-term follow-up and response to treatment. Atherosclerosis 174, 165-172. Abstract

Naoumova, R. P., Neuwirth, C., Pottinger, B., Whittal, R., Humphries, S. E., Soutar, A. K. (2004). Genetic diagnosis of familial hypercholesterolaemia a mutation and a rare non-pathogenic amino acid variant in the same family. Atherosclerosis 174, 67-71. Abstract

Naoumova, R. P., Thompson, G. R. & Soutar, A. K. (2004). Current management of severe homozygous hypercholesterolaemias. Current Opinion in Lipidology 15, 413-422. Abstract

Soutar, A. K. & Naoumova, R. P. (2004). Autosomal Recessive Hypercholesterolaemia. Seminars in Vascular Medicine 4, 241-248. Abstract

Soutar, A. K. & Naoumova, R. P. (2004). New causes of inherited hypercholesterolemia. International Atherosclerosis Society. Abstract

Knight, B. L, Patel, D. D, Humphreys, S. M, Wiggins, D & Gibbons, G. F. (2003). Inhibition of cholesterol absorption associated with a PPARα-dependent increase in ABC binding cassette transporter A1 in mice. Journal of Lipid Research 44, 2049-2058. Abstract | Full text

Naoumova, R. P., Patel, D. D., O'Neill, F. H., Thompson, G. R. & Knight B. L. (2003). Treatment with atorvastatin alters interleukin-12/interleukin-10 gene expression. European Journal of Clinical Investigation 33, 88-91. (Erratum in European Journal of Clinical Investigation (2003) 33, 359.) Abstract

Puckey, L. H. & Knight, B. K. (2003). Sequence and functional changes in a putative enhancer region upstream of the apolipoprotein(a) gene. Atherosclerosis 166, 119-127. Abstract

Soutar, A. K, Naoumova, R. P. & Traub, L. M. (2003). Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolaemia. Arteriosclerosis, Thrombosis, and Vascular Biology 23, 1963-1970. Abstract | Full text

Sun, X-M. & Soutar, A. K. (2003). The transmembrane domain and PXXP motifs of apoE-receptor 2 exclude it from carrying out clathrin-mediated endocytosis. The Journal of Biological Chemistry 278, 19926-19932. Abstract | Full text

Eden. E. R., Patel, D. D., Sun, X.-M., Burden, J. J., Themis, M., Edwards, M., Lee, P., Neuwirth, C., Naoumova, R. & Soutar A. (2002). Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. The Journal of Clinical Investigation 110, 1696-1702. Abstract | Full text

Sugden, M. C., Bulmer, K., Gibbons, G. F., Knight, B. L. & Holness M. J. (2002). Peroxisome-proliferator-activated receptor-α (PPARα)  deficiency leads to dysregulation of hepatic lipid and carbohydrate metabolism by fatty acids and insulin. Biochemical Journal 364, 361-368. Abstract | Full text

Eden, E. R., Naoumova, R. P., Burden, J. J., McCarthy, M. I. & Soutar, A. K. (2001). Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesetrolemia in two unrelated families. The American Journal of Human Genetics 68, 653-660. Abstract | Full text

O'Neill, F. H., Patel, D. D., Knight, B., Neuwirth, C. K. Y., Bourbon, M., Soutar, A. K., Taylor, G. W., Thompson, G. R. & Naoumova R.P. (2001). Determinants of variable response to statin treatment in patients with refractory familial hypercholesterolaemia. Artheriosclerosis, Thrombosis, and Vascular Biology 21, 832-837. Abstract | Full text

Patel, D. D., Knight, B. L., Wiggins, D., Humphries, S. M. & Gibbons, G. F. (2001). Distrubances in the normal regulation of SREBP-sensitive genes in PPARα-deficient mice. Journal of Lipid Research 42, 328-337. Abstract | Full text

Puckey, L. H. & Knight, B. L. (2001). Variation at position 162 of peroxisome proliferator-activated receptor α does not influence the effect of fibrates on cholesterol or triacyglycerol concentrations in hyperlipidaemic subjects. Pharmacogenetics 11, 619-624. Abstract

Riddell, D. R., Sun, X.-M., Stannard, A. K., Soutar, A. K. & Owen, J. S. (2001). Localization of apolipoprotein E receptor 2 to caveolae in the plasma membrane. Journal of Lipid Research 42, 998-1002. Abstract | Full text

Slimane, M. N., Lestavel, S., Sun, X., Maatouk, F., Soutar, A. K., Ben, F. M. H., Clavey, V., Benlian, P. & Hammami, M. (2001). Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families. Atherosclerosis 154, 557-565. Abstract

Trickett, J. I., Patel, D. D., Knight, B. L. Saggerson, E. D., Gibbons, G. F. & Pease, R. J. (2001). Characterization of the rodent genes  for arylacetamide deacetylase, a putative microsomal lipase, and evidence for transcriptional regulation. The Journal of Biological Chemistry 276, 39522-39532. Abstract | Full text

Ekström, U., Abrahamson, M., Sveger, T., Sun, X.-M., Soutar, A. K. & Nilsson, E. P. (2000). Expression of an LDL receptor allele with two different mutations (E256K and I402T). Molecular Pathology 53, 31-36. Abstract | Full text

Patel, D. D., Knight, B. L., Soutar, A. K., Gibbons, G. F. & Wade, D. P. (2000). The effect of peroxisome-proliferator-activated receptor-α on the activity of the cholesterol 7α-hydroxylase gene. Biochemical Journal 351, 747-753. Abstract | Full text

Bourbon, M., Fowler, A. M., Sun, X.-M. & Soutar, A. K. (1999). Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia. Clinical Genetics 56, 225-231. Abstract

Ekström, U., Abrahamson, M., Floren, C. H., Tollig, H., Wettrell, G., Nilsson, G., Sun, X.-M., Soutar, A. K. & Nilsson, E. P. (1999). An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). Clinical Genetics 55, 332-339. Abstract

Knight, B. L. (1999). Gene structure of apolipoprotein(a) and the regulation of its expression. Biochemical Society Transactions 27, 447-452.

Kreuter, R., Soutar, A. K. & Wade, D. P. (1999). Transcription factors CCAT/enhancer-binding protein β and nuclear factor-Y bind to discrete regulatory elements in the very low density lipoprotein receptor promoter. Journal of Lipid Research 40, 376-386. Abstract | Full text

Norman, D., Sun, X.-M., Bourbon, M., Knight, B. L, Naoumova, R. P. & Soutar, A. K. (1999). Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. The Journal of Clinical Investigation 104, 619-628.  Abstract | Full text

Puckey, L. H. & Knight, B. L. (1999). Dietary and genetic interactions in the regulation of plasma lipoprotein(a). Current Opinion in Lipidology 10, 35-40. Abstract

Sun, X.-M. & Soutar, A. K. (1999). Expression in vitro of alternatively spliced variants of the messenger RNA for human apolipoprotein E receptor-2 identified in human tissues by ribonuclease protection assays. European Journal of Biochemistry 262, 230-239. Abstract | Full text

Patel, D. D., Lelli, N., Garuti, R., Li Volti, S., Bertolini, S., Knight, B. L. & Calandra, S. (1998). Analysis of two duplications of the LDL receptor gene affecting the intracellular transport, catabolism and surface binding of the LDL receptor. Journal of Lipid Research 39, 1466-1475. Abstract | Full text

Pimstone, S. N., Sun, X.-M., du Souich, C., Frohlich, J. J., Hayden, M. R. & Soutar, A. K. (1998). Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. Arteriosclerosis, Thrombosis, and Vascular Biology. 18, 309-315. Abstract | Full text

Soutar, A. K. (1998). Update on low density lipoprotein receptor mutations. Current Opinion in Lipidology 9, 141-147. Abstract

Sun, X.-M., Patel, D. D., Knight, B. L. & Soutar, A. K.; The Familial Hypercholesterolaemia Regression Study Group. (1998). Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. Atherosclerosis 136, 175-185. Abstract

Patel, D. D., Forder, R. A., Soutar, A. K. & Knight, B. L. (1997). Synthesis and properties of the very-low-density-lipoprotein receptor and a comparison with the low-density-lipoprotein receptor. Biochemical Journal 324, 371-377. Abstract | Full text

Puckey, L. H., Lawn, R. M. & Knight, B. L. (1997). Polymorphisms in the apolipoprotein(a) gene and their relationship to allele size and plasma lipoprotein(a) concentration. Human Molecular Genetics 6, 1099-1107. Abstract | Full text

Sun, X.-M., Patel, D. D., Knight, B. L. & Soutar, A. K.; The Familial Hypercholesterolaemia Regression Study Group. (1997). Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. Arteriosclerosis, Thrombosis, and Vascular Biology 17, 3092-3101. Abstract | Full text

Wade, D. P., Puckey, L. H., Knight, B. L., Acquati, F., Mihalich, A. & Taramelli, R. (1997). Characterization of multiple enhancer regions upstream of the apolipoprotein(a) gene. The Journal of Biological Chemistry 272, 30387-30399. (Erratum in The Journal of Biological Chemistry (1998) 273, 3798.) Abstract | Full text

Booth, D. R., Tan, S. Y., Booth, S. E., Tennent, G. A., Hutchinson, W. L., Hsuan, J. J., Totty, N. F., Truong, O., Soutar, A. K., Hawkins, P. N., Bruguera, M., Caballeria, J., Sole, M., Campistol, J. M. & Pepys, M. B. (1996). Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. The Journal of Clinical Investigation 97, 2714-2721. Abstract | Full text

Soutar, A. K. (1996). Intracellular transport of the low-density lipoprotein receptor. Biochemical Society Transactions 24, 547-552.

Sun, X.-M., Neuwirth, C., Patel, D. D., Knight, B. L. & Soutar, A. K. (1996). Phenotypic variation and its correlation with mutations in the low density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. Zeitschrift für Gastroenterologie 34, 12-13.

Webb, J. C., Patel, D. D., Shoulders, C. C., Knight, B. L. & Soutar, A. K. (1996). Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. Human Molecular Genetics 5, 1325-1331. Abstract | Full text

Webb, J. C., Sun, X.-M., McCarthy, S. N., Neuwirth, C., Thompson, G. R., Knight, B. L. & Soutar, A. K. (1996). Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. Journal of Lipid Research 37, 368-381. Abstract | Full text