Research Topics
| John R BurnettSummaryAffiliation: Western Australia Country: Australia Publications
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Publications
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 deficiencyJohn 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...- Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuriaJohn 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... - Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemiaJohn 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... - 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... - Drug evaluation: ISIS-301012, an antisense oligonucleotide for the treatment of hypercholesterolemiaJohn 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... - Cholesterol absorption inhibitors as a therapeutic option for hypercholesterolaemiaJohn 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... - Drug evaluation: TAK-475--an oral inhibitor of squalene synthase for hyperlipidemiaJohn 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... - Drug evaluation: The MTP inhibitor JTT-130 as a potential treatment for hyperlipidemiaJohn 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... - 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... - Eflucimibe. Pierre Fabre/Eli LillyJohn 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... - Apolipoprotein B metabolism: tracer kinetics, models, and metabolic studiesJohn 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... - FM-VP4 Forbes Medi-TechJohn 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... - Avasimibe PfizerJohn 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]... - A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemiaJohn 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... - 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.... 
Genetic analysis of familial hypercholesterolaemia in Western AustraliaAmanda 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...- Opportunistic screening for familial hypercholesterolaemia via a community laboratoryDamon 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... - Screening for familial hypercholesterolaemiaROBERT 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... - Postprandial lipoprotein metabolism in familial hypobetalipoproteinemiaAmanda 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... - The ACAT inhibitor avasimibe increases the fractional clearance rate of postprandial triglyceride-rich lipoproteins in miniature pigsJohn 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... - Vitamin E supplementation and hepatic drug metabolism in humansMichael 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... 
A model of care for familial hypercholesterolaemia: key role for clinical biochemistryGerald 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...- Screening for lipid disordersDamon 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... - A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage diseaseAmanda 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... - Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemiaAbdulhadi 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... - Vitamin E in human health and diseaseMichael 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... - A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendencyAmanda 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... - Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distributionKhemanganee E Liyanage
School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, Western Australia
Crit Rev Clin Lab Sci 48:1-18. 2011.... - A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiologyGerald 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... - Liver dysfunction and steatosis in familial hypobetalipoproteinemiaAmanda 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... - Dalcetrapib , a cholesteryl ester transfer protein modulatorAmanda 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.... - Mipomersen and other therapies for the treatment of severe familial hypercholesterolemiaDamon 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.... - Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemiaMichael 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... - Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolismAmanda J Hooper
School of Surgery and Pathology, University of Western Australia, Crawley, Australia
Crit Rev Clin Lab Sci 42:515-45. 2005.... - High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutationsKhemanganee 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... - Lipid disorders and mutations in the APOB geneAmanda J Whitfield
School of Surgery and Pathology, University of Western Australia, Crawley
Clin Chem 50:1725-32. 2004..These naturally occurring mutations reveal key domains in apoB and demonstrate how monogenic dyslipidemias can provide insight into biologically important mechanisms... - A novel missense HGD gene mutation, K57N, in a patient with alkaptonuriaJonathan 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... - Genetic determinants of hepatic steatosis in manAmanda 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... - Familial hypercholesterolaemia: a model of care for AustralasiaGerald 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... - Anacetrapib, a cholesteryl ester transfer protein inhibitorAmanda 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..The results from Phase III trials investigating the efficacy of anacetrapib for the prevention of major coronary events in patients with atherosclerotic cardiovascular disorders are awaited with interest... - Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiologyTimothy 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... - Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegiaAmanda 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... - Mipomersen, an antisense apolipoprotein B synthesis inhibitorDamon 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..Although the short-term efficacy and safety of mipomersen has been established, concern exists regarding the long-term potential for hepatic steatosis with this ASO... - Recent developments in the genetics of LDL deficiencyAmanda 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... - Anti-PCSK9 therapies for the treatment of hypercholesterolemiaAmanda 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.... - Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantationTimothy 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... - Clomiphene-associated combined hyperlipidemia: a case reportMelissa 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... - The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African populationAmanda 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... - Inhibition of both the apical sodium-dependent bile acid transporter and HMG-CoA reductase markedly enhances the clearance of LDL apoBDawn 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... - Inhibition of the apical sodium-dependent bile acid transporter reduces LDL cholesterol and apoB by enhanced plasma clearance of LDL apoBMurray 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... - Familial hypercholesterolaemia: a look back, a look aheadJohn R Burnett
Med J Aust 182:552-3. 2005 - A mild case of abetalipoproteinaemia in association with subclinical hypothyroidismHuda 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... - Estimating LDL ApoB: infomania or clinical advance?John R Burnett
Clin Chem 54:782-4. 2008 - Apolipoprotein A-I-stimulated apolipoprotein E secretion from human macrophages is independent of cholesterol effluxMaaike Kockx
Macrophage Biology Group, Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia
J Biol Chem 279:25966-77. 2004....