Anne K Soutar

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. doi request reprint Unexpected roles for PCSK9 in lipid metabolism
    Anne K Soutar
    MRC Clinical Sciences Centre, Imperial College London, London, UK
    Curr Opin Lipidol 22:192-6. 2011
  2. ncbi request reprint Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia
    Anne K Soutar
    MRC Clinical Sciences Centre, Hammersmith Hospital, Faculty of Medicine, Imperial College, London, UK
    Arterioscler Thromb Vasc Biol 23:1963-70. 2003
  3. doi request reprint Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia
    Anne K Soutar
    Medical Research Council Clinical Sciences Centre, Imperial College Faculty of Medicine, Hammersmith Hospital, London W12 0NN, UK
    IUBMB Life 62:125-31. 2010
  4. ncbi request reprint Mechanisms of disease: genetic causes of familial hypercholesterolemia
    Anne K Soutar
    Lipoprotein Group, MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, UK
    Nat Clin Pract Cardiovasc Med 4:214-25. 2007
  5. ncbi request reprint 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
    Isabella Tosi
    MRC Clinical Sciences Centre, Imperial College London, United Kindom
    Atherosclerosis 194:102-11. 2007
  6. ncbi request reprint Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia
    Xi Ming Sun
    MRC Clinical Sciences Centre, Hammersmith Hospital, London, UK
    Hum Mol Genet 14:1161-9. 2005
  7. ncbi request reprint Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia
    Emily R Eden
    MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, DuCane Road, London W12 ONN, UK
    Hum Mol Genet 16:2751-9. 2007
  8. doi request reprint Increased secretion of lipoproteins in transgenic mice expressing human D374Y PCSK9 under physiological genetic control
    Bronwen Herbert
    Medical Research Council Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, DuCane Road, London W12 0NN, England
    Arterioscler Thromb Vasc Biol 30:1333-9. 2010
  9. doi request reprint Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells
    Tommaso Fasano
    MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, DuCane Road, London W12 ONN, UK
    Atherosclerosis 203:166-71. 2009
  10. ncbi request reprint Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response
    Rossi P Naoumova
    MRC Clinical Sciences Centre, Hammersmith Hospital, London W12 0NN, UK
    Arterioscler Thromb Vasc Biol 25:2654-60. 2005

Collaborators

Detail Information

Publications21

  1. doi request reprint Unexpected roles for PCSK9 in lipid metabolism
    Anne K Soutar
    MRC Clinical Sciences Centre, Imperial College London, London, UK
    Curr Opin Lipidol 22:192-6. 2011
    ..To consider the evidence that PCSK9 has effects on lipoprotein metabolism that are in addition to its role in promoting the degradation of the LDL receptor...
  2. ncbi request reprint Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia
    Anne K Soutar
    MRC Clinical Sciences Centre, Hammersmith Hospital, Faculty of Medicine, Imperial College, London, UK
    Arterioscler Thromb Vasc Biol 23:1963-70. 2003
    ....
  3. doi request reprint Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia
    Anne K Soutar
    Medical Research Council Clinical Sciences Centre, Imperial College Faculty of Medicine, Hammersmith Hospital, London W12 0NN, UK
    IUBMB Life 62:125-31. 2010
    ..Thus, PCSK9 has become a new target for cholesterol-lowering drug therapy...
  4. ncbi request reprint Mechanisms of disease: genetic causes of familial hypercholesterolemia
    Anne K Soutar
    Lipoprotein Group, MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, UK
    Nat Clin Pract Cardiovasc Med 4:214-25. 2007
    ..Thus, PCSK9 is an attractive target for new drugs aimed at lowering serum LDL cholesterol, which should have additive lipid-lowering effects to the statins currently used...
  5. ncbi request reprint 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
    Isabella Tosi
    MRC Clinical Sciences Centre, Imperial College London, United Kindom
    Atherosclerosis 194:102-11. 2007
    ..Our data confirm that DNA-based diagnosis provides information that is important for management of FH in a considerable number of families...
  6. ncbi request reprint Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia
    Xi Ming Sun
    MRC Clinical Sciences Centre, Hammersmith Hospital, London, UK
    Hum Mol Genet 14:1161-9. 2005
    ..This suggests that the variants of PCSK9 found in FH influence the secretion of apoB-containing lipoproteins, providing an explanation for the marked increase in circulating LDL in heterozygous carriers...
  7. ncbi request reprint Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia
    Emily R Eden
    MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, DuCane Road, London W12 ONN, UK
    Hum Mol Genet 16:2751-9. 2007
    ..Thus, we propose a novel role for Dab2 in ARH fibroblasts, where it is apparently required to allow normal translation of LDL receptor mRNA...
  8. doi request reprint Increased secretion of lipoproteins in transgenic mice expressing human D374Y PCSK9 under physiological genetic control
    Bronwen Herbert
    Medical Research Council Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, DuCane Road, London W12 0NN, England
    Arterioscler Thromb Vasc Biol 30:1333-9. 2010
    ....
  9. doi request reprint Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells
    Tommaso Fasano
    MRC Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, DuCane Road, London W12 ONN, UK
    Atherosclerosis 203:166-71. 2009
    ..Thus, PCSK9-mediated LDLR degradation is not entirely dependent on ARH function. We propose a novel ARH-independent pathway for PCSK9 activity on LDLR...
  10. ncbi request reprint Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response
    Rossi P Naoumova
    MRC Clinical Sciences Centre, Hammersmith Hospital, London W12 0NN, UK
    Arterioscler Thromb Vasc Biol 25:2654-60. 2005
    ....
  11. ncbi request reprint Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment
    Rossitza P Naoumova
    Medical Research Council Clinical Sciences Centre, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Atherosclerosis 174:165-72. 2004
    ..The cardiovascular complications of premature atherosclerosis seem to be delayed in some individuals and the involvement of the aortic root and valve are rarer in comparison with homozygous FH...
  12. doi request reprint Premature senescence in cells from patients with autosomal recessive hypercholesterolemia (ARH): evidence for a role for ARH in mitosis
    Xi Ming Sun
    Medical Research Council Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, United Kingdom
    Arterioscler Thromb Vasc Biol 31:2270-7. 2011
    ..The aim here was to elucidate why ARH fibroblasts grow slowly and undergo premature senescence...
  13. ncbi request reprint Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin-17
    Jemima J Burden
    Lipoprotein Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, DuCane Road, London W12 ONN, United Kingdom
    J Biol Chem 279:16237-45. 2004
    ..These results suggest that SNX17 plays a role in the cellular trafficking of the LDL receptor through interaction with the NPVY motif in its cytoplasmic domain and interaction of the PX domain with subcellular membrane compartments...
  14. ncbi request reprint Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same family
    Rossitza P Naoumova
    Medical Research Council Clinical Sciences Centre, Imperial College Faculty of Medicine, Hammersmith Hospital, DuCane Road, London W12 0NN, UK
    Atherosclerosis 174:67-71. 2004
    ....
  15. ncbi request reprint Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency
    Christiane Albrecht
    MRC Clinical Sciences Centre, Hammersmith Hospital, Faculty of Medicine, Imperial College, Du Cane Road, London W12 ONN, UK
    Biochim Biophys Acta 1689:47-57. 2004
    ..Both mutations prevent normal trafficking of ABCA1, thereby explaining their inability to mediate apoA1-dependent lipid efflux...
  16. ncbi request reprint Autosomal recessive hypercholesterolemia
    Anne K Soutar
    Medical Research Council Clinical Sciences Centre, Imperial College, Hammersmith Hospital, London W12 0NN, UK
    Semin Vasc Med 4:241-8. 2004
    ....
  17. pmc Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1
    Emily R Eden
    Medical Research Council, Clinical Sciences Centre, Faculty of Medicine, Imperial College, London, United Kingdom
    J Clin Invest 110:1695-702. 2002
    ....
  18. ncbi request reprint Current management of severe homozygous hypercholesterolaemias
    Rossi P Naoumova
    Medical Research Council Clinical Sciences Centre Imperial College, Hammersmith Hospital, London, UK
    Curr Opin Lipidol 15:413-22. 2004
    ..This review focuses on recent advances in the management of patients with homozygous familial hypercholesterolaemia, autosomal recessive hypercholesterolaemia and familial defective apolipoprotein B...
  19. ncbi request reprint The transmembrane domain and PXXP motifs of ApoE receptor 2 exclude it from carrying out clathrin-mediated endocytosis
    Xi Ming Sun
    Lipoprotein Group, Medical Research Council Clinical Sciences Centre, Imperial College Faculty of Medicine, London W12 ONN, United Kingdom
    J Biol Chem 278:19926-32. 2003
    ..Thus features of apoER2 that distinguish it as a signaling receptor, rather than as an endocytosis receptor like the LDL receptor, reside in or near the transmembrane domain and in the proline-rich motifs...
  20. ncbi request reprint 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
    Ioanna Gouni-Berthold
    Department of Internal Medicine II, University of Cologne, Kerpener Street 62, 50937 Cologne, Germany
    Atherosclerosis 198:198-207. 2008
    ..The molecular mechanisms underlying the pronounced lipid-lowering effects of this combination have not been fully elucidated in humans...
  21. ncbi request reprint A single point mutation in the low-density lipoprotein receptor switches the degradation of its mature protein from the proteasome to the lysosome
    José Javier Martín de Llano
    Laboratorio de Biologia Celular, Centro de Investigacion Principe Felipe, Avda Autopista del Saler 16, 46013 Valencia, Spain
    Int J Biochem Cell Biol 38:1340-51. 2006
    ..This suggests cooperation of proteasomes and lysosomes in the degradation of the low-density lipoprotein receptor and adds an intriguing new aspect to our understanding of receptor-mediated endocytosis...