Michael R Hayden

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children
    Henk Visscher
    University of British Columbia, Vancouver, British Columbia
    J Clin Oncol 30:1422-8. 2012
  2. ncbi Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 7:71. 2006
  3. ncbi CAG-encoded polyglutamine length polymorphism in the human genome
    Stefanie L Butland
    UBC Bioinformatics Centre, Michael Smith Laboratories, University of British Columbia, Vancouver, Canada
    BMC Genomics 8:126. 2007
  4. ncbi Mice lacking caspase-2 are protected from behavioral changes, but not pathology, in the YAC128 model of Huntington disease
    Jeffrey B Carroll
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4, Canada
    Mol Neurodegener 6:59. 2011
  5. ncbi Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene
    Roshni R Singaraja
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, and Children s and Women s Hospital, Vancouver, BC, Canada
    Arterioscler Thromb Vasc Biol 23:1322-32. 2003
  6. ncbi Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency
    M R Hayden
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Curr Opin Lipidol 11:117-22. 2000
  7. ncbi Predictive testing for Huntington's disease: a universal model?
    Michael R Hayden
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, V5Z 4H4, Vancouver, BC, Canada
    Lancet Neurol 2:141-2. 2003
  8. ncbi Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function
    Anat Yanai
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada
    Nat Neurosci 9:824-31. 2006
  9. ncbi Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models
    Rona K Graham
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4
    Neurobiol Dis 21:444-55. 2006
  10. ncbi Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin
    Rona K Graham
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada
    Cell 125:1179-91. 2006

Detail Information

Publications125 found, 100 shown here

  1. ncbi Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children
    Henk Visscher
    University of British Columbia, Vancouver, British Columbia
    J Clin Oncol 30:1422-8. 2012
    ..Our aim was to identify genetic variants associated with ACT in patients treated for childhood cancer...
  2. ncbi Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 7:71. 2006
    ....
  3. ncbi CAG-encoded polyglutamine length polymorphism in the human genome
    Stefanie L Butland
    UBC Bioinformatics Centre, Michael Smith Laboratories, University of British Columbia, Vancouver, Canada
    BMC Genomics 8:126. 2007
    ....
  4. ncbi Mice lacking caspase-2 are protected from behavioral changes, but not pathology, in the YAC128 model of Huntington disease
    Jeffrey B Carroll
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, V5Z 4H4, Canada
    Mol Neurodegener 6:59. 2011
    ..abstract:..
  5. ncbi Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene
    Roshni R Singaraja
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, and Children s and Women s Hospital, Vancouver, BC, Canada
    Arterioscler Thromb Vasc Biol 23:1322-32. 2003
    ..In this study we review how genetic variation at the ABCA1 locus affects its role in the maintenance of lipid homeostasis and the natural progression of atherosclerosis...
  6. ncbi Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency
    M R Hayden
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Curr Opin Lipidol 11:117-22. 2000
    ....
  7. ncbi Predictive testing for Huntington's disease: a universal model?
    Michael R Hayden
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, V5Z 4H4, Vancouver, BC, Canada
    Lancet Neurol 2:141-2. 2003
  8. ncbi Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function
    Anat Yanai
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada
    Nat Neurosci 9:824-31. 2006
    ..These results suggest that the expansion of the polyglutamine tract in htt results in decreased palmitoylation, which contributes to the formation of inclusion bodies and enhanced neuronal toxicity...
  9. ncbi Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models
    Rona K Graham
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4
    Neurobiol Dis 21:444-55. 2006
    ..These results provide clear evidence in vivo supporting a more severe phenotype associated with increased levels of mutant huntingtin as seen in homozygotes for HD...
  10. ncbi Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin
    Rona K Graham
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada
    Cell 125:1179-91. 2006
    ....
  11. ncbi Polyglutamine-modulated striatal calpain activity in YAC transgenic huntington disease mouse model: impact on NMDA receptor function and toxicity
    Catherine M Cowan
    Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z3
    J Neurosci 28:12725-35. 2008
    ..Thus, the cumulative effect of increasing huntingtin polyglutamine length is to enhance MSN sensitivity to excitotoxicity at least in part by calpain-mediated cell death signaling...
  12. ncbi Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V6T 1Z3
    Neurobiol Dis 26:189-200. 2007
    ..Importantly, the demonstration of penetrance across all three strains permits examining the effect of specific genes on the phenotypic severity in YAC128 mice without necessarily backcrossing onto the FVB/N strain background...
  13. ncbi Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis
    Liam R Brunham
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
    Arterioscler Thromb Vasc Biol 29:548-54. 2009
    ..The ATP-binding cassette transporter, subfamily A, member 1 (ABCA1) plays a key role in HDL cholesterol metabolism. However, the role of ABCA1 in modulating susceptibility to atherosclerosis is controversial...
  14. ncbi Phosphorylation of huntingtin at Ser421 in YAC128 neurons is associated with protection of YAC128 neurons from NMDA-mediated excitotoxicity and is modulated by PP1 and PP2A
    Martina Metzler
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada
    J Neurosci 30:14318-29. 2010
    ....
  15. ncbi Despite antiatherogenic metabolic characteristics, SCD1-deficient mice have increased inflammation and atherosclerosis
    Marcia L E MacDonald
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, and Child and Family Research Institute, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4
    Arterioscler Thromb Vasc Biol 29:341-7. 2009
    ..The aim of this study was to determine the effect of SCD1 deficiency on atherosclerosis...
  16. ncbi Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function
    Roshni R Singaraja
    950 West 28th Ave, Vancouver, BC, V5Z 4H4, Canada
    Circ Res 105:138-47. 2009
    ..Thus, palmitoylation regulates ABCA1 localization at the plasma membrane, and regulates its lipid efflux ability...
  17. ncbi Altered palmitoylation and neuropathological deficits in mice lacking HIP14
    Roshni R Singaraja
    Centre for Molecular Medicine and Therapeutics and Child and Family Research Institute, Vancouver, BC, Canada
    Hum Mol Genet 20:3899-909. 2011
    ..Hip14 is dysfunctional in the presence of mutant htt in the YAC128 mouse model of HD, suggesting that altered palmitoylation mediated by HIP14 may contribute to HD...
  18. ncbi Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, V5Z 4H4, BC, Canada
    BMC Neurosci 7:80. 2006
    ....
  19. ncbi Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis
    Jonathan M Coutinho
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada
    J Lipid Res 46:1113-23. 2005
    ..Our humanized ABCA1 mice can serve as a useful model system for functional analysis of the human ABCA1 gene in vivo and can be used for the generation of potential new therapeutics that target HDL metabolism...
  20. ncbi Low levels of human HIP14 are sufficient to rescue neuropathological, behavioural, and enzymatic defects due to loss of murine HIP14 in Hip14-/- mice
    Fiona B Young
    Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    PLoS ONE 7:e36315. 2012
    ..Our findings yield important insights into HIP14 function in vivo...
  21. ncbi Specific loss of brain ABCA1 increases brain cholesterol uptake and influences neuronal structure and function
    Joanna M Karasinska
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, V5Z 4H4 Canada
    J Neurosci 29:3579-89. 2009
    ..Moreover, our findings also demonstrate that specific changes in brain cholesterol metabolism can lead to alterations in cholesterol uptake from plasma to brain...
  22. ncbi Differential susceptibility to excitotoxic stress in YAC128 mouse models of Huntington disease between initiation and progression of disease
    Rona K Graham
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4
    J Neurosci 29:2193-204. 2009
    ..These data highlight the dynamic nature of the mutant htt-mediated excitotoxic phenotype and suggests that therapeutic approaches to HD may need to be altered, depending on the stage and development of the disease...
  23. ncbi Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo
    Veronica Hirsch-Reinshagen
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada
    J Lipid Res 48:914-23. 2007
    ..These data suggest that an induction of ABCA1 expression may be associated with late-stage Alzheimer's neuropathology...
  24. ncbi Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation
    Colin J D Ross
    Department of Medical Genetics, University of British Columbia, and Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada V5Z 4H4
    Hum Gene Ther 17:487-99. 2006
    ..We conclude that AAV1-mediated delivery of LPL(S447X) in muscle is an effective means to correct the hypertriglyceridemia associated with feline LPL deficiency...
  25. ncbi Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions
    Elizabeth J Slow
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada V5Z 4H4
    Proc Natl Acad Sci U S A 102:11402-7. 2005
    ....
  26. ncbi Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments
    Simon C Warby
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z4H4, Canada
    Mol Cell Neurosci 40:121-7. 2009
    ....
  27. ncbi Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo
    Rona K Graham
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, Brain Research Centre, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4
    J Neurosci 30:15019-29. 2010
    ....
  28. ncbi The Canadian Pharmacogenomics Network for Drug Safety: a model for safety pharmacology
    Colin J D Ross
    Department of Medical Genetics, Faculty of Medicine, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada
    Thyroid 20:681-7. 2010
    ....
  29. ncbi Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin
    Jeffrey B Carroll
    Program in Neuroscience, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Mol Ther 19:2178-85. 2011
    ..We demonstrate that potent and selective allele-specific knockdown of the mHTT protein can be achieved at therapeutically relevant SNP sites using ASOs in vitro and in vivo...
  30. ncbi Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus
    Simon C Warby
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, 980 West 28th Avenue, Vancouver, British Columbia, Canada
    Hum Mol Genet 17:2390-404. 2008
    ..The different cellular itineraries of endogenously generated caspase products of huntingtin may provide an explanation for the selective toxicity of huntingtin fragments cleaved at amino acid 586...
  31. ncbi The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease
    Veronica Hirsch-Reinshagen
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia V4Z 5H5, Canada
    J Biol Chem 280:43243-56. 2005
    ..These data suggested that ABCA1-mediated effects on apoE levels and lipidation influenced amyloidogenesis in vivo...
  32. ncbi NMDA receptor function and NMDA receptor-dependent phosphorylation of huntingtin is altered by the endocytic protein HIP1
    Martina Metzler
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4
    J Neurosci 27:2298-308. 2007
    ..These findings may provide novel insights into the cellular mechanisms underlying enhanced NMDA-induced excitotoxicity in Huntington's disease...
  33. ncbi Elevated plasma triglyceride levels precede amyloid deposition in Alzheimer's disease mouse models with abundant A beta in plasma
    Braydon L Burgess
    Department of Pathology and Laboratory Medicine, University of British Columbia, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4
    Neurobiol Dis 24:114-27. 2006
    ..Our results suggest that the presence of A beta in plasma may affect peripheral lipid metabolism early in AD pathogenesis...
  34. ncbi Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin
    Mahmoud A Pouladi
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V6T 1Z3 Canada
    Brain 132:919-32. 2009
    ..In conclusion, our study provides strong support for a primary neurobiological basis for depression in Huntington disease...
  35. ncbi Wild-type huntingtin protects neurons from excitotoxicity
    Blair R Leavitt
    Centre for Molecular Medicine and Therapeutics, British Colombia Research Institute for Children s and Women s Health, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    J Neurochem 96:1121-9. 2006
    ....
  36. ncbi Loss of both ABCA1 and ABCG1 results in increased disturbances in islet sterol homeostasis, inflammation, and impaired β-cell function
    Janine K Kruit
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada
    Diabetes 61:659-64. 2012
    ..These data suggest that ABCA1 and ABCG1 each make complimentary and important contributions to β-cell function by maintaining islet cholesterol homeostasis in vivo...
  37. ncbi Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14
    Kun Huang
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4
    Hum Mol Genet 20:3356-65. 2011
    ..This study describes an important biochemical function for wild-type HTT modulation of HIP14 palmitoylation and its enzymatic activity...
  38. ncbi Natural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease
    Jeffrey B Carroll
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada V5Z 4H4
    Neurobiol Dis 43:257-65. 2011
    ..The use of mice furthermore enables us to address questions difficult to address in humans, including the sequential changes of HD from baseline and the relation between MRI and stereological measures...
  39. ncbi Body weight is modulated by levels of full-length huntingtin
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V6T 1Z3
    Hum Mol Genet 15:1513-23. 2006
    ..Overall, we demonstrate that increased levels of both wild-type and mutant full-length htt are associated with increased body weight...
  40. ncbi Interaction of postsynaptic density protein-95 with NMDA receptors influences excitotoxicity in the yeast artificial chromosome mouse model of Huntington's disease
    Jing Fan
    Graduate Program in Neuroscience, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
    J Neurosci 29:10928-38. 2009
    ..Our results elucidate further the mechanisms underlying enhanced excitotoxicity in HD...
  41. ncbi Testicular degeneration in Huntington disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, 950 West 28th Ave, Vancouver, BC, Canada V5Z 4H4
    Neurobiol Dis 26:512-20. 2007
    ..Understanding the pathogenesis of HD in the testis may reveal common critical pathways which lead to degeneration in both the brain and testis...
  42. ncbi Both hepatic and extrahepatic ABCA1 have discrete and essential functions in the maintenance of plasma high-density lipoprotein cholesterol levels in vivo
    Roshni R Singaraja
    Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada
    Circulation 114:1301-9. 2006
    ..Recent studies, however, including both overexpression and deletion of ABCA1 selectively in the liver, have highlighted the primary role of the liver in the maintenance of HDL levels in vivo...
  43. ncbi Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity
    Kun Huang
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada
    FASEB J 23:2605-15. 2009
    ..Taken together, this study indicates that individual PATs have specific substrate preference, determined by regulatory domains outside the DHHC domain of the enzymes...
  44. ncbi Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis
    Kristina Becanovic
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V5Z 4H4
    Hum Mol Genet 19:1438-52. 2010
    ..Further study of these genes may unravel novel pathways contributing to HD pathogenesis. DDBJ/EMBL/GenBank accession no: GSE19677...
  45. ncbi miR-33a modulates ABCA1 expression, cholesterol accumulation, and insulin secretion in pancreatic islets
    Nadeeja Wijesekara
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Diabetes 61:653-8. 2012
    ..These findings confirm the critical role of β-cell ABCA1 in islet cholesterol homeostasis and β-cell function and highlight modulation of β-cell miR-33a expression as a means to influence insulin secretion...
  46. ncbi Mitochondrial sensitivity and altered calcium handling underlie enhanced NMDA-induced apoptosis in YAC128 model of Huntington's disease
    Herman B Fernandes
    Department of Psychiatry and Brain Research Centre, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z3
    J Neurosci 27:13614-23. 2007
    ..These results suggest that the CAG repeat length influences the mechanism by which mHtt enhances NMDAR-mediated excitotoxicity...
  47. ncbi The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
    Melissa B Glier
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Canada
    Peptides 31:123-9. 2010
    ..We conclude that the increased food intake and increased energy expenditure of Scd1-/- mice are independent of the neuropeptide melanin-concentrating hormone...
  48. ncbi HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
    Simon C Warby
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
    Eur J Hum Genet 19:561-6. 2011
    ..Instead, the expansion bias may be because of genetic cis-elements within the haplotype that influence CAG instability in HTT, possibly through different mutational mechanisms for the different haplogroups...
  49. ncbi Ethyl-EPA treatment improves motor dysfunction, but not neurodegeneration in the YAC128 mouse model of Huntington disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, British Columbia Research Institute for Children's and Women's Health, University of British Columbia, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4
    Exp Neurol 196:266-72. 2005
    ..Overall, this work demonstrates the feasibility of experimental therapeutics in the YAC128 mouse model and suggests that experiments in these mice may be predictive for future human clinical trials...
  50. ncbi Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain
    Veronica Hirsch-Reinshagen
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver V5Z 4H4, Canada
    J Biol Chem 279:41197-207. 2004
    ..Additionally, the effect of ABCA1 on apoE is selective, as apoJ levels are unchanged in brains of ABCA1-/- mice. Taken together, these results show that glial ABCA1 is a key influence on apoE metabolism in the CNS...
  51. ncbi Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression
    Mahmoud A Pouladi
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, and Child and Family Research Institute, Vancouver, BC, Canada V5Z 4H4
    Hum Mol Genet 19:1528-38. 2010
    ..We demonstrate that the levels of FL htt influence IGF-1 expression in striatal tissues. Our data identify a novel function for FL htt in influencing IGF-1 expression...
  52. ncbi Intestinal ABCA1 directly contributes to HDL biogenesis in vivo
    Liam R Brunham
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    J Clin Invest 116:1052-62. 2006
    ..These data establish a critical role for intestinal ABCA1 in plasma HDL biogenesis in vivo...
  53. ncbi Islet cholesterol accumulation due to loss of ABCA1 leads to impaired exocytosis of insulin granules
    Janine K Kruit
    Departments of Medical Genetics, Centre for Molecular Medicine, and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Diabetes 60:3186-96. 2011
    ..The ATP-binding cassette transporter A1 (ABCA1) is essential for normal insulin secretion from β-cells. The aim of this study was to elucidate the mechanisms underlying the impaired insulin secretion in islets lacking β-cell ABCA1...
  54. ncbi Striatal neuronal apoptosis is preferentially enhanced by NMDA receptor activation in YAC transgenic mouse model of Huntington disease
    Jacqueline Shehadeh
    Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada
    Neurobiol Dis 21:392-403. 2006
    ..Our results suggest that increased NMDAR signaling plays a major role in enhanced excitotoxic MSN death in this HD mouse model...
  55. ncbi Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro
    Roshni R Singaraja
    Center for Molecular Medicine and Therapeutics, University of British Columbia and Child and Family Research Institute, Vancouver, British Columbia, Canada
    Circ Res 99:389-97. 2006
    ....
  56. ncbi Tissue-specific induction of intestinal ABCA1 expression with a liver X receptor agonist raises plasma HDL cholesterol levels
    Liam R Brunham
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Circ Res 99:672-4. 2006
    ..These data indicate that intestinal ABCA1 may be an attractive therapeutic target for raising HDL levels while avoiding the hepatic lipogenesis and hypertriglyceridemia typical of systemic LXR activation...
  57. ncbi Hepatic ATP-binding cassette transporter A1 is a key molecule in high-density lipoprotein cholesteryl ester metabolism in mice
    Roshni R Singaraja
    University of British Columbia, Vancouver, Canada
    Arterioscler Thromb Vasc Biol 26:1821-7. 2006
    ..However, the role of ABCA1 in the liver for HDL apolipoprotein and cholesteryl ester (CE) catabolism in vivo is unknown...
  58. ncbi Protective up-regulation of CK2 by mutant huntingtin in cells co-expressing NMDA receptors
    Mannie M Y Fan
    Graduate Program in Neuroscience, University of British Columbia, British Columbia, Canada
    J Neurochem 104:790-805. 2008
    ....
  59. ncbi CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup
    Simon C Warby
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, BC, Canada
    Am J Hum Genet 84:351-66. 2009
    ....
  60. ncbi Cystamine treatment is neuroprotective in the YAC128 mouse model of Huntington disease
    Jeremy M Van Raamsdonk
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics and British Columbia Research Institute for Women and Children's Health, University of British Columbia, Vancouver, British Columbia, Canada
    J Neurochem 95:210-20. 2005
    ..While the exact mechanism responsible for the beneficial effects of cystamine in YAC128 mice is uncertain, our findings suggest that cystamine is neuroprotective and may be beneficial in the treatment of HD...
  61. ncbi Enhanced striatal NR2B-containing N-methyl-D-aspartate receptor-mediated synaptic currents in a mouse model of Huntington disease
    Lijun Li
    Kinsmen Laboratory, Department of Psychiatry, University of British Columbia, 4N3 2255 Wesbrook Mall, Vancouver, BC V6T 1Z3, Canada
    J Neurophysiol 92:2738-46. 2004
    ..Together with previous results, our data suggest that enhanced activity of NR2B-containing NMDARs is one of the earliest changes leading to neuronal degeneration in HD...
  62. ncbi Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1
    Cheryl L Wellington
    Centre for Molecular Medicine and Therapeutics, British Columbia Children s and Women s Hospital, University of British Columbia, Vancouver, BC, Canada
    J Lipid Res 44:1470-80. 2003
    ..Our results suggest that appropriate regulation of ABCA1 is critical for a selective increase in HDL cholesterol levels...
  63. ncbi Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1
    Roshni R Singaraja
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada
    J Lipid Res 46:2061-71. 2005
    ..Our data indicate that specific transcripts in different tissues play key roles in alterations of ABCA1-mediated changes in HDL levels and atherosclerosis in response to environmental stimuli...
  64. ncbi Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation
    Colin J D Ross
    Department of Medical Genetics, University of British Columbia, Centre for Molecular Medicine and Therapeutics, Vancouver, Canada
    Arterioscler Thromb Vasc Biol 25:2143-50. 2005
    ..9-fold higher than LPLWT (P<0.01). These data provide in vivo evidence that the increased catalytic activity of LPLS447X improves plasma TG clearance and increases the HDL cholesterol pool compared with LPLWT...
  65. ncbi Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease
    Yvonne Bombard
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Am J Med Genet B Neuropsychiatr Genet 156:19-27. 2011
    ..Overall, highly educated individuals were also more likely to report discrimination. These results provide direction for clinical and family discussions, counseling practice, and policy aimed at mitigating experiences of GD...
  66. ncbi Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo
    Simon C Warby
    Centre for Molecular Medicine and Therapeutics CMMT, British Columbia Children s and Women s Hospital, University of British Columbia, 980 West 28th Avenue, Vancouver, British Columbia V5Z 4H4, Canada
    Hum Mol Genet 14:1569-77. 2005
    ..The presence and pattern of significant htt phosphorylation in the brain indicates that this dynamic post-translational modification is important for the regulation of htt and may contribute to the selective neurodegeneration seen in HD...
  67. ncbi Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment
    Liam R Brunham
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia V5Z 4H4, Canada
    Nat Med 13:340-7. 2007
    ..These experiments establish a new role for Abca1 in beta-cell cholesterol homeostasis and insulin secretion, and suggest that cholesterol accumulation may contribute to beta-cell dysfunction in type 2 diabetes...
  68. ncbi Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease
    Elizabeth J Slow
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4
    Hum Mol Genet 12:1555-67. 2003
    ....
  69. ncbi Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease
    Cheryl L Wellington
    Centre for Molecular Medicine and Therapeutics, British Columbia Children's and Women's Hospital, Vancouver, British Columbia, Canada
    J Neurosci 22:7862-72. 2002
    ....
  70. ncbi Early increase in extrasynaptic NMDA receptor signaling and expression contributes to phenotype onset in Huntington's disease mice
    Austen J Milnerwood
    Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 1Z3, Canada
    Neuron 65:178-90. 2010
    ..We provide a candidate mechanism linking several pathways previously implicated in HD pathogenesis and demonstrate successful early therapeutic intervention in mice...
  71. ncbi Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins
    Kun Huang
    Department of Psychiatry, Brain Research Centre, University of British Columbia, Vancouver, British Columbia, Canada
    Neuron 44:977-86. 2004
    ..These findings define HIP14 as a mammalian palmitoyl transferase involved in the palmitoylation and trafficking of multiple neuronal proteins...
  72. ncbi Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, University of British Columbia, and Centre for Molecular Medicine and Thrapeutics, British Columbia Research Institute for Children's and Women's Health, Vancouver, Canada
    Hum Mol Genet 14:3823-35. 2005
    ....
  73. ncbi Role of NR2B-type NMDA receptors in selective neurodegeneration in Huntington disease
    Lijun Li
    Kinsmen Laboratories, Department of Psychiatry, University of British Columbia, 4N3-2255 Westbrook Mall, BC, Vancouver, Canada V6T 1Z3
    Neurobiol Aging 24:1113-21. 2003
    ..Potentiation of NR2B-containing NMDAR current in striatal MSNs expressing mutant huntingtin may help explain the exquisite vulnerability of these neurons to degeneration in HD...
  74. ncbi Small changes, big impact: posttranslational modifications and function of huntingtin in Huntington disease
    Dagmar E Ehrnhoefer
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
    Neuroscientist 17:475-92. 2011
    ..Identifying and testing specific modulators of PTMs now constitute the next big challenges in order to further validate these targets and proceed towards the goal of a mechanism-based treatment for HD...
  75. ncbi Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Hum Mol Genet 14:1379-92. 2005
    ....
  76. ncbi Selective degeneration in YAC mouse models of Huntington disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Brain Res Bull 72:124-31. 2007
    ..Overall, YAC mice recapitulate the region specific damage that occurs in HD and provide a suitable model for examining the mechanisms underlying of selective degeneration...
  77. ncbi Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington's disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V6T 1Z3 Canada
    J Neurosci 25:4169-80. 2005
    ....
  78. ncbi Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease
    Edmond Y W Chan
    Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, Children's and Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada, V5H 4H4
    Hum Mol Genet 11:1939-51. 2002
    ..Furthermore, our findings suggest that short N-terminal fragments of mutant htt might be responsible for the gene expression alterations observed in human HD brain...
  79. ncbi HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis
    Roshni R Singaraja
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4
    Hum Mol Genet 11:2815-28. 2002
    ..Our findings suggest that decreased interaction between htt and HIP14 could contribute to the neuronal dysfunction in HD by perturbing normal intracellular transport pathways in neurons...
  80. ncbi Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior
    Edmond Y W Chan
    Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, Children s and Women s Hospital, University of British Columbia, Vancouver, British Columbia, Canada
    Hum Mol Genet 11:945-59. 2002
    ..HAP-1 is particularly enriched in the hypothalamus, which is well documented to regulate feeding behavior. Our results demonstrate that HAP-1 plays an essential role in regulating postnatal feeding...
  81. ncbi Mouse models of Huntington disease: variations on a theme
    Dagmar E Ehrnhoefer
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada
    Dis Model Mech 2:123-9. 2009
    ..These differences in phenotypic expression may be attributable to the influences of protein context, mouse strain and a difference in regulatory sequences between the mouse Htt and human HTT genes...
  82. ncbi Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease
    Melinda M Zeron
    Kinsmen Laboratory of Neurological Research, Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z3
    Mol Cell Neurosci 25:469-79. 2004
    ..Agents that improve mitochondrial function or inhibit the permeability transition may eliminate increased caspase activation and cell death associated with enhanced NMDAR activity in HD...
  83. ncbi Increased ABCA1 activity protects against atherosclerosis
    Roshni R Singaraja
    Centre for Molecular Medicine and Therapeutics, Children s and Women s Hospital, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia V5Z 4H4, Canada
    J Clin Invest 110:35-42. 2002
    ..Lipid analysis of HDL particles from BAC(+)ApoE(-/-) mice revealed an increase in phospholipid levels, which was correlated significantly with their ability to enhance cholesterol efflux...
  84. ncbi To be or not to be toxic: aggregations in Huntington and Alzheimer disease
    Elizabeth J Slow
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver V5Z 4H4, BC, Canada
    Trends Genet 22:408-11. 2006
    ..Furthermore, aggregates can exist in the absence of disease pathology in mice or symptoms in humans. Recent research suggests that soluble protein fragments, not insoluble aggregated proteins, are the toxic species in these disorders...
  85. ncbi Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey
    Yvonne Bombard
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada
    BMJ 338:b2175. 2009
    ..To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington's disease who had undergone genetic testing or remained untested...
  86. ncbi Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood
    Rebecca S Devon
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, and Children and Women s Hospital, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4
    Neurobiol Dis 18:243-57. 2005
    ..Additionally, the product of a second, widely expressed gene, ALS2 C-terminal like (ALS2CL), may subserve or modulate some of the functions of alsin as an activator of Rab and Rho GTPases...
  87. ncbi Psychosocial effects of predictive testing for Huntington's disease
    Michael R Hayden
    Department of Medical Genetics, Centrefor Molecular Medicine and Therapeutics, Children's and Women's Health Centre of British Columbia, University of British Columbia, Vancouver, Canada
    Adv Neurol 96:226-39. 2005
  88. ncbi Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene
    Liam R Brunham
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia
    PLoS Genet 1:e83. 2005
    ....
  89. ncbi Altered NMDA receptor trafficking in a yeast artificial chromosome transgenic mouse model of Huntington's disease
    Mannie M Y Fan
    Graduate Program in Neuroscience, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z3
    J Neurosci 27:3768-79. 2007
    ..This polyQ length-dependent, neuronal-specific change in NMDAR activity induced by mhtt may contribute to selective neuronal degeneration in HD...
  90. ncbi Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
    S M Clee
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada
    J Clin Invest 106:1263-70. 2000
    ..These data provide direct evidence that impairment of cholesterol efflux and consequently reverse cholesterol transport is associated with reduced plasma HDL-C levels and increased risk of CAD...
  91. ncbi Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux
    M Marcil
    Xenon Bioresearch Inc, NRC Innovation Centre, Vancouver, British Columbia, Canada
    Lancet 354:1341-6. 1999
    ..This gene codes for the cholesterol-efflux regulatory protein (CERP). We investigated the presence of mutations in this gene in patients with familial HDL deficiency...
  92. ncbi Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol
    Cheryl L Wellington
    Centre for Molecular Medicine and Therapeutics, Childrens' and Women's Hospital, University of British Columbia, 980 West 28th Avenue, Vancouver, British Columbia, Canada
    J Lipid Res 43:1939-49. 2002
    ..These data suggest that ABCA1 requires a physical association with itself or other molecules for normal function and has important pharmacogenetic implications for individuals with truncation mutations...
  93. ncbi Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
    A Brooks-Wilson
    Xenon Bioresearch Inc, NRC Innovation Centre, Vancouver, British Columbia, Canada
    Nat Genet 22:336-45. 1999
    ..This indicates that the protein encoded by ABC1 is a key gatekeeper influencing intracellular cholesterol transport, hence we have named it cholesterol efflux regulatory protein (CERP)...
  94. ncbi Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice
    J K Kruit
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, BC, Canada V5Z 4H4
    Diabetologia 53:1110-9. 2010
    ..In this study, we aimed to determine the role of the LDL receptor (LDLr) in islet cholesterol uptake and to assess the contributions of cholesterol uptake compared with efflux to islet cholesterol levels...
  95. ncbi Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1
    R R Singaraja
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics and Children s and Women s Hospital, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada
    J Biol Chem 276:33969-79. 2001
    ..These data provide proof of the principle that increased human ABCA1 efflux activity is associated with an increase in HDL levels in vivo...
  96. ncbi Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease
    S M Clee
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada
    Circulation 103:1198-205. 2001
    ..However, the extent to which common variation within this gene influences plasma lipid levels and CAD in the general population is unknown...
  97. ncbi Plasma and vessel wall lipoprotein lipase have different roles in atherosclerosis
    S M Clee
    Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada V5Z 4H4
    J Lipid Res 41:521-31. 2000
    ..Taken together, these results provide in vivo evidence that the contribution of LPL to atherogenesis is significantly influenced by the balance between vessel wall protein (pro-atherogenic) and plasma activity (anti-atherogenic)...
  98. ncbi ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels
    K Y Zwarts
    Centre for Molecular Medicine and Therapeutics, Vancouver, British Columbia, Canada
    Clin Genet 61:115-25. 2002
    ..These data suggest that common variation in non-coding regions of ABCA1 may significantly alter the severity of atherosclerosis, without necessarily influencing plasma lipid levels...
  99. ncbi Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity
    Frederick C Nucifora
    Division of Neurobiology, Department of Psychiatry, and The Program in Cellular and Molecular Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 2196, USA
    J Biol Chem 278:13047-55. 2003
    ..These data indicate that truncation of atrophin-1 may alter its ability to shuttle between the nucleus and cytoplasm, leading to abnormal nuclear interactions and cell toxicity...
  100. ncbi Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines
    Alexander V Panov
    Department of Neurology, Emory University School of Medicine, Whitehead Biomedical Research Building, 615 Michael Street, Atlanta, Georgia 30322, USA
    Nat Neurosci 5:731-6. 2002
    ..Thus, mitochondrial calcium abnormalities occur early in HD pathogenesis and may be a direct effect of mutant huntingtin on the organelle...
  101. ncbi HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain
    Valerie Legendre-Guillemin
    Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada
    J Biol Chem 277:19897-904. 2002
    ..Interestingly, in both HIP1 and HIP12, this domain binds directly to the clathrin light chain. Our data suggest that HIP1 and HIP12 play related yet distinct functional roles in clathrin-mediated endocytosis...