Published in Neuroscience on January 01, 1999
Caspase 3-cleaved N-terminal fragments of wild-type and mutant huntingtin are present in normal and Huntington's disease brains, associate with membranes, and undergo calpain-dependent proteolysis. Proc Natl Acad Sci U S A (2001) 1.99
Down syndrome fibroblast model of Alzheimer-related endosome pathology: accelerated endocytosis promotes late endocytic defects. Am J Pathol (2008) 1.28
Huntingtin-interacting protein 1 is overexpressed in prostate and colon cancer and is critical for cellular survival. J Clin Invest (2002) 1.17
Huntington's disease. Mol Pathol (2001) 1.16
A role for huntington disease protein in dendritic RNA granules. J Biol Chem (2010) 1.01
Are there multiple pathways in the pathogenesis of Huntington's disease? Philos Trans R Soc Lond B Biol Sci (1999) 0.87
Dysregulation of Corticostriatal Connectivity in Huntington's Disease: A Role for Dopamine Modulation. J Huntingtons Dis (2016) 0.75
Protein aggregation activates erratic stress response in dietary restricted yeast cells. Sci Rep (2016) 0.75
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science (1997) 11.53
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet (1999) 7.30
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet (1993) 5.82
The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing. N Engl J Med (1992) 5.51
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science (2001) 5.28
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet (2004) 4.73
Concordance of the toxicity of pharmaceuticals in humans and in animals. Regul Toxicol Pharmacol (2000) 4.58
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
Relation between Food Concentration and Surface for Bacterial Growth. J Bacteriol (1940) 3.66
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron (1999) 3.50
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell (1995) 3.45
Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy. J Neurosci (2000) 3.16
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet (1996) 3.08
Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron (1995) 3.08
Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral deficits. Proc Natl Acad Sci U S A (2007) 3.07
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet (1997) 2.84
Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Clin Pharmacol Ther (2013) 2.70
A one-hit model of cell death in inherited neuronal degenerations. Nature (2000) 2.65
Arm function after stroke: measurement and recovery over the first three months. J Neurol Neurosurg Psychiatry (1987) 2.60
Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. Am J Med Genet (1992) 2.53
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet (1998) 2.42
Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study. Clin Pharmacol Ther (2008) 2.31
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem (1998) 2.23
Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res (1990) 2.23
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19
Early and progressive accumulation of reactive microglia in the Huntington disease brain. J Neuropathol Exp Neurol (2001) 2.17
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet (2007) 2.15
A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet (1999) 2.12
Clinical markers of early disease in persons near onset of Huntington's disease. Neurology (2001) 2.11
An actin-binding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles. J Cell Biol (1999) 2.10
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nat Genet (1997) 2.09
Interactions between quantitative trait loci in soybean in which trait variation at one locus is conditional upon a specific allele at another. Proc Natl Acad Sci U S A (1995) 2.08
Walking after stroke. Measurement and recovery over the first 3 months. Scand J Rehabil Med (1987) 2.08
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet (1999) 2.02
Environmental iodine intake and thyroid dysfunction during chronic amiodarone therapy. Ann Intern Med (1984) 2.01
Caspase 3-cleaved N-terminal fragments of wild-type and mutant huntingtin are present in normal and Huntington's disease brains, associate with membranes, and undergo calpain-dependent proteolysis. Proc Natl Acad Sci U S A (2001) 1.99
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest (2000) 1.98
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet (1994) 1.97
Wild-type huntingtin protects from apoptosis upstream of caspase-3. J Neurosci (2000) 1.92
The influence of huntingtin protein size on nuclear localization and cellular toxicity. J Cell Biol (1998) 1.87
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. Diabetologia (2010) 1.87
Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways. Exp Neurol (1998) 1.85
Huntingtin localization in brains of normal and Huntington's disease patients. Ann Neurol (1997) 1.82
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet (1997) 1.82
Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells. J Biol Chem (2000) 1.79
Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex. Cell Death Differ (1998) 1.76
NMDA receptor function in mouse models of Huntington disease. J Neurosci Res (2001) 1.76
Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet (1990) 1.75
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation (2001) 1.71
First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70
Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity. J Neurochem (1999) 1.66
Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children. Pediatr Blood Cancer (2013) 1.65
Lipoprotein lipase activity is associated with severity of angina pectoris. REGRESS Study Group. Circulation (2000) 1.65
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64
Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. J Lipid Res (2001) 1.62
Inherited infantile dilated cardiomyopathy in dogs: genetic, clinical, biochemical, and morphologic findings. Am J Med Genet (2000) 1.61
DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. Am J Hum Genet (1987) 1.61
Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J (2011) 1.60
Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program. Am J Med Genet (1993) 1.59
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet (2003) 1.58
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet (1995) 1.55
HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. J Biol Chem (2001) 1.54
Immortalization of embryonic mesencephalic dopaminergic neurons by somatic cell fusion. Brain Res (1991) 1.54
Changes in cortical and striatal neurons predict behavioral and electrophysiological abnormalities in a transgenic murine model of Huntington's disease. J Neurosci (2001) 1.52
The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci U S A (2001) 1.51
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem (1996) 1.47
Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity. Hum Genet (1991) 1.46
Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. Am J Med Genet (1989) 1.46
Communicating pharmacogenetic research results to breastfeeding mothers taking codeine: a pilot study of perceptions and benefits. Clin Pharmacol Ther (2010) 1.44
Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ (2004) 1.44
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet (1995) 1.43
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics (1987) 1.42
Pentoxifylline improves bacterial clearance during hemorrhage and endotoxemia. Crit Care Med (1999) 1.42
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A (1989) 1.41
Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet. Clin Genet (1989) 1.41
Coordinate occupancy of AP-1 sites in the vitamin D-responsive and CCAAT box elements by Fos-Jun in the osteocalcin gene: model for phenotype suppression of transcription. Proc Natl Acad Sci U S A (1990) 1.41
The analgesic effect of racemic ketamine in patients with chronic ischemic pain due to lower extremity arteriosclerosis obliterans. Acta Anaesthesiol Scand (1998) 1.40
Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition. J Neurosci (1999) 1.40
Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet (2001) 1.39
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum Mol Genet (1993) 1.39
George Huntington: the man behind the eponym. J Med Genet (1993) 1.39
Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries. Cytogenet Genome Res (2002) 1.39
Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am J Hum Genet (2000) 1.38
Positron emission tomography in the early diagnosis of Huntington's disease. Neurology (1986) 1.33
A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet (2001) 1.33
Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo- and hyperlipidaemic individuals. Atherosclerosis (1987) 1.32
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31
Induction of cell cycle arrest and morphological differentiation by Nurr1 and retinoids in dopamine MN9D cells. J Biol Chem (2001) 1.31
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet (2006) 1.29