John R Burnett

Summary

Affiliation: Western Australia
Country: Australia

Publications

  1. pmc Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia
    Damon A Bell
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia
    Vasc Health Risk Manag 8:651-9. 2012
  2. ncbi Apolipoprotein B metabolism: tracer kinetics, models, and metabolic studies
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, University of Western Australia, Australia
    Crit Rev Clin Lab Sci 39:89-137. 2002
  3. ncbi Drug evaluation: The MTP inhibitor JTT-130 as a potential treatment for hyperlipidemia
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and School of Medicine and Pharmacology, University of Western Australia, Perth, WA 6847, Australia
    IDrugs 9:495-9. 2006
  4. ncbi Drug evaluation: TAK-475--an oral inhibitor of squalene synthase for hyperlipidemia
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Australia
    Curr Opin Investig Drugs 7:850-6. 2006
  5. ncbi Cholesterol absorption inhibitors as a therapeutic option for hypercholesterolaemia
    John R Burnett
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Wellington Street Campus, GPO Box X2213, Perth, WA 6847, Australia
    Expert Opin Investig Drugs 15:1337-51. 2006
  6. ncbi Drug evaluation: ISIS-301012, an antisense oligonucleotide for the treatment of hypercholesterolemia
    John R Burnett
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Wellington Street, GPO Box X2213, Perth, WA 6847, Australia
    Curr Opin Mol Ther 8:461-7. 2006
  7. ncbi MTP inhibition as a treatment for dyslipidaemias: time to deliver or empty promises?
    John R Burnett
    PathWest Laboratory Medicine, Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, GPO Box X2213, Perth, WA 6847, Australia
    Expert Opin Ther Targets 11:181-9. 2007
  8. ncbi Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Australia
    J Biol Chem 282:24270-83. 2007
  9. ncbi Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and School of Medicine and Pharmacology, University of Western Australia, Perth, WA 6847, Australia
    IDrugs 10:805-13. 2007
  10. ncbi Torcetrapib + atorvastatin (Pfizer)
    John R Burnett
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Perth, WA 6847, Australia
    Curr Opin Investig Drugs 6:944-50. 2005

Collaborators

Detail Information

Publications59

  1. pmc Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia
    Damon A Bell
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia
    Vasc Health Risk Manag 8:651-9. 2012
    ....
  2. ncbi Apolipoprotein B metabolism: tracer kinetics, models, and metabolic studies
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, University of Western Australia, Australia
    Crit Rev Clin Lab Sci 39:89-137. 2002
    ..New developments and significant advances over the last decade are discussed...
  3. ncbi Drug evaluation: The MTP inhibitor JTT-130 as a potential treatment for hyperlipidemia
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and School of Medicine and Pharmacology, University of Western Australia, Perth, WA 6847, Australia
    IDrugs 9:495-9. 2006
    ..By August 2005, the compound was undergoing a phase II clinical trial in Japan, as well as a phase I trial in Europe...
  4. ncbi Drug evaluation: TAK-475--an oral inhibitor of squalene synthase for hyperlipidemia
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Australia
    Curr Opin Investig Drugs 7:850-6. 2006
    ..By March 2005, TAK-475 was undergoing phase III clinical trials in the US and Europe...
  5. ncbi Cholesterol absorption inhibitors as a therapeutic option for hypercholesterolaemia
    John R Burnett
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Wellington Street Campus, GPO Box X2213, Perth, WA 6847, Australia
    Expert Opin Investig Drugs 15:1337-51. 2006
    ..This review focuses on the recent progress in the molecular mechanisms of intestinal cholesterol absorption and transport, and novel therapeutic approaches to inhibit the cholesterol absorption process...
  6. ncbi Drug evaluation: ISIS-301012, an antisense oligonucleotide for the treatment of hypercholesterolemia
    John R Burnett
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Wellington Street, GPO Box X2213, Perth, WA 6847, Australia
    Curr Opin Mol Ther 8:461-7. 2006
    ..A subcutaneous injectable formulation is currently undergoing phase 11 clinical trials, while phase I trials are underway with an oral formulation of the drug...
  7. ncbi MTP inhibition as a treatment for dyslipidaemias: time to deliver or empty promises?
    John R Burnett
    PathWest Laboratory Medicine, Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Wellington Street Campus, GPO Box X2213, Perth, WA 6847, Australia
    Expert Opin Ther Targets 11:181-9. 2007
    ..However, certain safety issues with these agents need resolving, particularly fatty liver disease...
  8. ncbi Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Australia
    J Biol Chem 282:24270-83. 2007
    ..Thus, proper folding of the alpha-helical domain of apoB-100 is essential for efficient secretion...
  9. ncbi Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and School of Medicine and Pharmacology, University of Western Australia, Perth, WA 6847, Australia
    IDrugs 10:805-13. 2007
    ..According to Thomson Scientific's Strategic Drugs Database (SDdb), the worldwide consensus forecast values for Kuvan are approximately US $120, 190 and 260 million for 2008, 2009 and 2010, respectively...
  10. ncbi Torcetrapib + atorvastatin (Pfizer)
    John R Burnett
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Perth, WA 6847, Australia
    Curr Opin Investig Drugs 6:944-50. 2005
    ..As of April 2005, phase III trials were ongoing...
  11. ncbi Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency
    John R Burnett
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Wellington Street, GPO Box X2213, Perth, WA 6847, Australia
    Curr Opin Mol Ther 11:681-91. 2009
    ..The compound is also under investigation for the treatment of type V hyperlipoproteinemia, Syndrome X and non-alcoholic steatohepatitis...
  12. ncbi Cardiovascular disease and osteoporosis: is there a link between lipids and bone?
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, WA, Australia
    Ann Clin Biochem 39:203-10. 2002
    ....
  13. ncbi Avasimibe Pfizer
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Division of Laboratory Medicine, Royal Perth Hospital, Wellington Street, Perth, WA 6847, Australia
    Curr Opin Investig Drugs 3:1328-33. 2002
    ..The compound is currently undergoing phase III clinical trials [371470]...
  14. ncbi A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital and Department of Pathology, University of Western Australia, Perth WA 6847, Western Australia, Australia
    J Biol Chem 278:13442-52. 2003
    ..Thus, the naturally occurring R463W mutant reveals a key local domain governing assembly and secretion of apoB-containing lipoproteins...
  15. ncbi Eflucimibe. Pierre Fabre/Eli Lilly
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital and School of Surgery and Pathology, University of Western Australia, Wellington Street, GPO Box X2213, Perth, Western Australia 6847, Australia
    Curr Opin Investig Drugs 4:347-51. 2003
    ..Phase II clinical trials commenced during 2002...
  16. ncbi FM-VP4 Forbes Medi-Tech
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, School of Surgery and Pathology, University of Western Australia, Wellington Street, GPO Box X2213, Perth, WA 6847, Australia
    Curr Opin Investig Drugs 4:1120-5. 2003
    ..By March 2002, FM-VP4 had entered phase I clinical trials and phase II trials were underway by late 2002...
  17. doi Genetic analysis of familial hypercholesterolaemia in Western Australia
    Amanda J Hooper
    Cardiovascular Genetics Laboratory, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia
    Atherosclerosis 224:430-4. 2012
    ..To determine the spectrum of mutations associated with familial hypercholesterolaemia (FH) and their detection rate in the FH Western Australia (FHWA) Program...
  18. doi Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia
    Liesl V Heeks
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia
    Clin Chim Acta 421:121-5. 2013
    ....
  19. doi Opportunistic screening for familial hypercholesterolaemia via a community laboratory
    Damon A Bell
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, GPO Box X2213, Perth, WA 6847, Australia
    Ann Clin Biochem 49:534-7. 2012
    ..The majority of people with FH are currently undiagnosed. We sought to determine the ability of a community laboratory to screen for individuals with potential FH...
  20. doi Screening for familial hypercholesterolaemia
    ROBERT BENDER
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Western Australia, Australia
    Pathology 44:122-8. 2012
    ..However, for screening to be successful, medical practitioners need to be aware of the signs and diagnosis of FH and the benefits of early treatment...
  21. ncbi The ACAT inhibitor avasimibe increases the fractional clearance rate of postprandial triglyceride-rich lipoproteins in miniature pigs
    John R Burnett
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and School of Medicine and Pharmacology, University of Western Australia, Perth, Australia
    Biochim Biophys Acta 1738:10-8. 2005
    ..Thus, although avasimibe had no effect on intestinal TRL secretion, plasma TRL clearance was significantly increased; an effect that may relate to a decreased competition with hepatic VLDL for removal processes...
  22. ncbi Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia
    Amanda J Hooper
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Wellington Street, GPO Box X2213, Perth, and School of Medicine and Pharmacology, University of Western Australia, Crawley, Australia
    J Clin Endocrinol Metab 92:1474-8. 2007
    ..We examined the effect of truncated apoB variants (<apoB-48) causing FHBL on postprandial triglyceride-rich lipoprotein (TRL) metabolism...
  23. doi Impact of interpretative commenting on lipid profiles in people at high risk of familial hypercholesterolaemia
    Damon A Bell
    Department of Clinical Biochemistry, Royal Perth Hospital, Perth, WA, Australia
    Clin Chim Acta 422:21-5. 2013
    ..However, it is currently underdiagnosed and undertreated in Australasia. We sought to investigate whether interpretative commenting on lipid profiles could improve FH detection and treatment...
  24. doi Vitamin E supplementation and hepatic drug metabolism in humans
    Michael W Clarke
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, University of Western Australia, Perth, Western Australia, Australia
    J Cardiovasc Pharmacol 54:491-6. 2009
    ..These findings do not support the hypothesis that alpha-TOH supplementation interferes with hepatic CYP3A4-mediated drug metabolism...
  25. doi Recent developments in the genetics of LDL deficiency
    Amanda J Hooper
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Australia
    Curr Opin Lipidol 24:111-5. 2013
    ..In this review, we discuss the recent developments in the genetics of LDL deficiency...
  26. pmc A model of care for familial hypercholesterolaemia: key role for clinical biochemistry
    Gerald F Watts
    Lipid Disorders Clinic, Metabolic Research Centre and Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia
    Clin Biochem Rev 33:25-31. 2012
    ..An executive summary of the model of care is presented, with a commentary on its recommendations and the key role of the clinical biochemistry laboratory...
  27. ncbi Detecting familial hypercholesterolaemia in the community: impact of a telephone call from a chemical pathologist to the requesting general practitioner
    Damon A Bell
    School of Medicine and Pharmacology, University of Western Australia, Perth, Australia Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia Lipid Disorders Clinic, Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia Electronic address
    Atherosclerosis 234:469-72. 2014
    ..To determine whether a telephone call from a chemical pathologist to the requesting general practitioner (GP) of individuals at high risk of familial hypercholesterolaemia (FH) increases specialist referral and detection of FH...
  28. ncbi Liver dysfunction and steatosis in familial hypobetalipoproteinemia
    Amanda J Whitfield
    School of Surgery and Pathology, University of Western Australia, Crawley, Perth, Australia
    Clin Chem 51:266-9. 2005
    ..5 (c.11040T>G) mutation. This unique case shows an unusual combination of underlying disorders that could all be contributing to liver dysfunction and fatty liver...
  29. doi Anti-PCSK9 therapies for the treatment of hypercholesterolemia
    Amanda J Hooper
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Perth, Western Australia
    Expert Opin Biol Ther 13:429-35. 2013
    ..PCSK9 is a novel, attractive and viable therapeutic target for the treatment of hypercholesterolemia, with human studies using a variety of anti-PCSK9 therapies underway...
  30. doi Screening for lipid disorders
    Damon A Bell
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Western Australia, Australia
    Pathology 44:115-21. 2012
    ..This review examines the role of screening in the detection and treatment of individuals with lipid disorders...
  31. doi A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency
    Amanda J Hooper
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Australia
    Clin Chim Acta 409:136-9. 2009
    ..4121C>T, which changes arginine 1270 to a stop codon (R1270X). In conclusion, we describe a case of Tangier disease in association with an unrecognised bleeding tendency, in a man homozygous for a novel ABCA1 gene mutation, R1270X...
  32. doi Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia
    Abdulhadi I Bima
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA 6847, Australia
    Ann Clin Biochem 46:420-2. 2009
    ..In summary, we describe a case of HBL secondary to chronic HCV infection in a patient with FH, confirmed by mutational analysis...
  33. doi A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease
    Amanda J Hooper
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia
    Clin Chim Acta 398:152-4. 2008
    ..In summary, we describe a CESD patient compound heterozygous for the LIPA exon 8 splice junction mutation and a novel missense mutation, N98S...
  34. ncbi Vitamin E in human health and disease
    Michael W Clarke
    School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia
    Crit Rev Clin Lab Sci 45:417-50. 2008
    ..Other possibilities include an adverse effect of alpha-TOH on blood pressure in high-risk populations. Because of the wide popularity and use of vitamin E supplements, further research into potential adverse effects is clearly warranted...
  35. doi Mipomersen, an antisense apolipoprotein B synthesis inhibitor
    Damon A Bell
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine, Perth, Western Australia
    Expert Opin Investig Drugs 20:265-72. 2011
    ....
  36. ncbi Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia
    Michael W Clarke
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA, Australia
    Clin Chem 52:1339-45. 2006
    ..We examined the effect of truncated apoB variants on vitamin E metabolism and oxidative stress in persons with FHBL...
  37. doi Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution
    Khemanganee E Liyanage
    School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Western Australia
    Crit Rev Clin Lab Sci 48:1-18. 2011
    ....
  38. doi A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiology
    Gerald F Watts
    Lipid Disorders Clinic, Department of Internal Medicine, Royal Perth Hospital, WA 6847, Australia
    Heart Lung Circ 19:419-22. 2010
    ..FH remains underdiagnosed and inadequately treated, with no national strategies for dealing with the problem. We report an executive summary of a comprehensive model of care for FH developed in Western Australia...
  39. ncbi Lipoprotein apheresis and new therapies for severe familial hypercholesterolemia in adults and children
    Michael M Page
    Lipid Disorders Clinic, Department of Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia
    Best Pract Res Clin Endocrinol Metab 28:387-403. 2014
    ..This article describes the rationale and role of lipoprotein apheresis in the treatment of severe FH and outlines the recent advances in new pharmacotherapies for this condition...
  40. doi Dalcetrapib , a cholesteryl ester transfer protein modulator
    Amanda J Hooper
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Perth, Western Australia
    Expert Opin Investig Drugs 21:1427-32. 2012
    ....
  41. doi A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria
    Jonathan M Grasko
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia
    Clin Chim Acta 403:254-6. 2009
    ..In summary, we describe an alkaptonuric patient and report a novel missense HGD mutation, K57N...
  42. pmc Genetic determinants of hepatic steatosis in man
    Amanda J Hooper
    Department of Core Clinical Pathology and Biochemistry, Royal Perth Hospital, Perth, Australia
    J Lipid Res 52:593-617. 2011
    ..Identifying the genetic determinants of hepatic steatosis will lead to a better understanding of the pathogenesis and progression of NAFLD...
  43. ncbi Lipid disorders and mutations in the APOB gene
    Amanda J Whitfield
    School of Surgery and Pathology, University of Western Australia, Crawley
    Clin Chem 50:1725-32. 2004
    ..In addition to being the essential structural component of VLDL, apoB-100 is the ligand for LDL-receptor-mediated endocytosis of LDL particles...
  44. doi High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations
    Khemanganee E Liyanage
    School of Surgery and Pathology, University of Western Australia, Perth, Australia
    Ann Clin Biochem 45:170-6. 2008
    ..FDB cannot be clinically distinguished from heterozygous LDL-receptor-defective familial hypercholesterolaemia (FH) without genetic testing...
  45. ncbi Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism
    Amanda J Hooper
    School of Surgery and Pathology, University of Western Australia, Crawley, Australia
    Crit Rev Clin Lab Sci 42:515-45. 2005
    ....
  46. doi Familial hypercholesterolaemia: a model of care for Australasia
    Gerald F Watts
    Lipid Disorders Clinic, Metabolic Research Centre and Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia
    Atheroscler Suppl 12:221-63. 2011
    ..After initial implementation, the MoC will require critical evaluation, development and appropriate modification...
  47. doi Anacetrapib, a cholesteryl ester transfer protein inhibitor
    Amanda J Hooper
    Royal Perth Hospital, Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Perth, Western Australia
    Expert Opin Investig Drugs 21:103-9. 2012
    ..However, anacetrapib does not appear to exhibit these effects and is being developed as a selective inhibitor of CETP to be orally administered for the treatment of primary hypercholesterolemia and mixed hyperlipidemia...
  48. ncbi Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology
    Timothy R Bates
    Lipid Disorders Clinic and Department of Internal Medicine, Royal Perth Hospital, GPO Box X2213, Perth, Western Australia 6847, Australia
    Heart Lung Circ 17:411-3. 2008
    ..Amongst those with FH, only 38% were on statin therapy and only 22% were treated to National Heart Foundation targets. Detection and treatment of FH represents a major gap in coronary prevention...
  49. doi Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia
    Amanda J Hooper
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia
    Clin Chim Acta 390:152-5. 2008
    ..8 mmol/L, apoB 0.31 g/L), were heterozygous for a single nucleotide deletion in exon 26 of the APOB gene. This mutation is predicted to form a truncated apoB species of 3545 amino acids, which we have designated apoB-78.2...
  50. ncbi Update on primary hypobetalipoproteinemia
    Amanda J Hooper
    Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Wellington Street, GPO Box X2213, Perth, WA, 6847, Australia
    Curr Atheroscler Rep 16:423. 2014
    ..In the future, massively parallel sequencing of panels of genes involved in dyslipidemia may play a greater role in the diagnosis of these conditions...
  51. ncbi The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population
    Amanda J Hooper
    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia
    Atherosclerosis 193:445-8. 2007
    ..We sought to determine the frequency and effect of these nonsense variants in an African population...
  52. ncbi Clomiphene-associated combined hyperlipidemia: a case report
    Melissa J Gillett
    Department of Core Clinical Pathology and Biochemistry, Path West Laboratory Medicine WA, Royal Perth Hospital, Perth, Western Australia, Australia
    J Reprod Med 51:587-90. 2006
    ..Clomiphene is structurally similar to other synthetic estrogen analogs, which are known to induce marked hypertriglyceridemia. There is a paucity of data regarding the effects of clomiphene on lipid metabolism in humans...
  53. doi Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation
    Timothy R Bates
    Department of Internal Medicine, Swan District Hospital, Middle Swan, Western Australia, Australia
    Liver Transpl 17:1481-4. 2011
    ..One year after liver transplantation, the patient had normal plasma ammonia concentrations and had returned to work...
  54. ncbi Inhibition of the apical sodium-dependent bile acid transporter reduces LDL cholesterol and apoB by enhanced plasma clearance of LDL apoB
    Murray W Huff
    Department of Medicine and Biochemistry and The John P Robarts Research Institute, The University of Western Ontario, London, Ontario, Canada
    Arterioscler Thromb Vasc Biol 22:1884-91. 2002
    ..The objective of this study was to determine whether a novel, specific, minimally absorbed ASBT inhibitor (SC-435) decreases LDL cholesterol through the alteration of plasma apoB kinetics...
  55. ncbi Inhibition of both the apical sodium-dependent bile acid transporter and HMG-CoA reductase markedly enhances the clearance of LDL apoB
    Dawn E Telford
    Robarts Research Institute and Departments of Medicine and Biochemistry, University of Western Ontario, London, Ontario, Canada
    J Lipid Res 44:943-52. 2003
    ..We conclude that SC-435+A potentiates the reduction of LDL-C and LDL apoB due to complementary mechanisms of action...
  56. ncbi Apolipoprotein A-I-stimulated apolipoprotein E secretion from human macrophages is independent of cholesterol efflux
    Maaike Kockx
    Macrophage Biology Group, Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia
    J Biol Chem 279:25966-77. 2004
    ....
  57. ncbi Estimating LDL ApoB: infomania or clinical advance?
    John R Burnett
    Clin Chem 54:782-4. 2008
  58. ncbi Familial hypercholesterolaemia: a look back, a look ahead
    John R Burnett
    Med J Aust 182:552-3. 2005
  59. ncbi A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism
    Huda A Al-Mahdili
    Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Camperdown, NSW, Australia
    Ann Clin Biochem 43:516-9. 2006
    ..61 + 2T > C) and a single adenine insertion in MTP exon 4 (c.419-420insA) that results in a frameshift and a protein truncated at 140 amino acids...