Published in Genet Med on March 01, 2011
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Increased ABCA1 activity protects against atherosclerosis. J Clin Invest (2002) 2.13
Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients. Arterioscler Thromb Vasc Biol (2008) 2.10
Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease. J Neurosci (2002) 2.05
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Inhibition of calpain cleavage of huntingtin reduces toxicity: accumulation of calpain/caspase fragments in the nucleus. J Biol Chem (2004) 1.82
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A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease. J Am Coll Cardiol (2004) 1.58
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. J Neurosci (2010) 1.58
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Verbal episodic memory declines prior to diagnosis in Huntington's disease. Neuropsychologia (2007) 1.54
Automated deformation analysis in the YAC128 Huntington disease mouse model. Neuroimage (2007) 1.54
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BDNF overexpression in the forebrain rescues Huntington's disease phenotypes in YAC128 mice. J Neurosci (2010) 1.44
Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein. Circulation (2003) 1.44
Age-dependent alterations of corticostriatal activity in the YAC128 mouse model of Huntington disease. J Neurosci (2009) 1.43
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Differential susceptibility to excitotoxic stress in YAC128 mouse models of Huntington disease between initiation and progression of disease. J Neurosci (2009) 1.40
Cortical thickness measured from MRI in the YAC128 mouse model of Huntington's disease. Neuroimage (2008) 1.40
Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. Hum Mol Genet (2005) 1.40
Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease. Hum Mol Genet (2005) 1.39
Hippi is essential for node cilia assembly and Sonic hedgehog signaling. Dev Biol (2006) 1.37
Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis. Arterioscler Thromb Vasc Biol (2009) 1.36
CAG-encoded polyglutamine length polymorphism in the human genome. BMC Genomics (2007) 1.36
Enhanced striatal NR2B-containing N-methyl-D-aspartate receptor-mediated synaptic currents in a mouse model of Huntington disease. J Neurophysiol (2004) 1.32
Cholesterol in islet dysfunction and type 2 diabetes. J Clin Invest (2008) 1.32
Specific loss of brain ABCA1 increases brain cholesterol uptake and influences neuronal structure and function. J Neurosci (2009) 1.31
N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease. Cell Cycle (2007) 1.31
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HDL and LDL cholesterol significantly influence beta-cell function in type 2 diabetes mellitus. Curr Opin Lipidol (2010) 1.29
Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease. Am J Med Genet B Neuropsychiatr Genet (2008) 1.29
Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction. J Neurosci (2004) 1.27
Loss of both ABCA1 and ABCG1 results in increased disturbances in islet sterol homeostasis, inflammation, and impaired β-cell function. Diabetes (2012) 1.26
Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus. Hum Mol Genet (2008) 1.26
Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction. Diabetes Care (2010) 1.26
HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain. J Biol Chem (2002) 1.26
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain (2003) 1.26
Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain. Neurobiol Dis (2006) 1.25
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. Circ Res (2006) 1.25
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Body weight is modulated by levels of full-length huntingtin. Hum Mol Genet (2006) 1.25
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