Published in Hum Mol Genet on March 15, 2002
TEsting METformin Against Cognitive Decline in HD | NCT04826692
RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc Natl Acad Sci U S A (2005) 4.79
Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. J Neurosci (2008) 3.54
Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function. Nat Neurosci (2006) 2.19
Early autophagic response in a novel knock-in model of Huntington disease. Hum Mol Genet (2010) 1.99
Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. J Clin Invest (2011) 1.79
Extensive early motor and non-motor behavioral deficits are followed by striatal neuronal loss in knock-in Huntington's disease mice. Neuroscience (2008) 1.76
Huntington's disease: can mice lead the way to treatment? Neuron (2011) 1.71
Biology and genetics of prions causing neurodegeneration. Annu Rev Genet (2013) 1.63
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis (2008) 1.58
Choosing an animal model for the study of Huntington's disease. Nat Rev Neurosci (2013) 1.47
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. J Clin Invest (2006) 1.44
Knock-in mouse models of Huntington's disease. NeuroRx (2005) 1.40
Huntingtin Subcellular Localisation Is Regulated by Kinase Signalling Activity in the StHdhQ111 Model of HD. PLoS One (2015) 1.40
Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci (2005) 1.35
The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor. BMC Neurosci (2002) 1.24
Mouse models of Huntington's disease and methodological considerations for therapeutic trials. Biochim Biophys Acta (2009) 1.14
Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease. J Biol Chem (2009) 1.10
Translating therapies for Huntington's disease from genetic animal models to clinical trials. NeuroRx (2004) 1.05
Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo. BMC Dev Biol (2005) 1.04
HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet (2011) 1.04
Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models. Nat Med (2013) 1.04
Inhibiting the nucleation of amyloid structure in a huntingtin fragment by targeting α-helix-rich oligomeric intermediates. J Mol Biol (2011) 1.03
Ser46 phosphorylation and prolyl-isomerase Pin1-mediated isomerization of p53 are key events in p53-dependent apoptosis induced by mutant huntingtin. Proc Natl Acad Sci U S A (2011) 0.97
Genetic and pharmacological inhibition of calcineurin corrects the BDNF transport defect in Huntington's disease. Mol Brain (2009) 0.96
Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation. Hum Mol Genet (2011) 0.96
Longitudinal behavioral, cross-sectional transcriptional and histopathological characterization of a knock-in mouse model of Huntington's disease with 140 CAG repeats. Exp Neurol (2010) 0.93
Impaired heat shock response in cells expressing full-length polyglutamine-expanded huntingtin. PLoS One (2012) 0.90
A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice. PLoS One (2013) 0.89
Multiple phenotypes in Huntington disease mouse neural stem cells. Mol Cell Neurosci (2012) 0.89
A Longitudinal Operant Assessment of Cognitive and Behavioural Changes in the HdhQ111 Mouse Model of Huntington's Disease. PLoS One (2016) 0.89
Transducer of regulated CREB-binding proteins (TORCs) transcription and function is impaired in Huntington's disease. Hum Mol Genet (2012) 0.87
Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet (2011) 0.87
Homeostatic adaptations in brain energy metabolism in mouse models of Huntington disease. J Cereb Blood Flow Metab (2012) 0.86
Role of p53 in neurodegenerative diseases. Neurodegener Dis (2011) 0.86
Dysregulation of dopamine receptor D2 as a sensitive measure for Huntington disease pathology in model mice. Proc Natl Acad Sci U S A (2012) 0.85
Huntingtin's function in axonal transport is conserved in Drosophila melanogaster. PLoS One (2013) 0.85
Mouse models of polyglutamine diseases: review and data table. Part I. Mol Neurobiol (2012) 0.84
Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice. PLoS One (2012) 0.83
Nucleic Acid-Based Therapy Approaches for Huntington's Disease. Neurol Res Int (2012) 0.80
Characterization of HTT inclusion size, location, and timing in the zQ175 mouse model of Huntington's disease: an in vivo high-content imaging study. PLoS One (2015) 0.77
A Longitudinal Motor Characterisation of the HdhQ111 Mouse Model of Huntington's Disease. J Huntingtons Dis (2016) 0.77
Chromosome substitution strain assessment of a Huntington's disease modifier locus. Mamm Genome (2015) 0.76
Effects of Pin1 Loss in Hdh(Q111) Knock-in Mice. Front Cell Neurosci (2016) 0.75
Potential molecular consequences of transgene integration: The R6/2 mouse example. Sci Rep (2017) 0.75
Identification of hepta-histidine as a candidate drug for Huntington's disease by in silico-in vitro- in vivo-integrated screens of chemical libraries. Sci Rep (2016) 0.75
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease. Hum Mol Genet (2016) 0.75
High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington's disease expansion mutation carriers shows normal mitochondrial respiratory function. PLoS One (2017) 0.75
Differential Alteration in Expression of Striatal GABAAR Subunits in Mouse Models of Huntington's Disease. Front Mol Neurosci (2017) 0.75
Polyglutamine expansion affects huntingtin conformation in multiple Huntington's disease models. Sci Rep (2017) 0.75
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase. Hum Mol Genet (2003) 5.92
Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell (2004) 5.67
Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet (2008) 5.04
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell (2013) 4.45
Minocycline inhibits cytochrome c release and delays progression of amyotrophic lateral sclerosis in mice. Nature (2002) 4.21
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci (2002) 4.15
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. Hum Mol Genet (2003) 4.07
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A (2004) 3.73
A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Mol Cell (2004) 3.26
BACE1, a major determinant of selective vulnerability of the brain to amyloid-beta amyloidogenesis, is essential for cognitive, emotional, and synaptic functions. J Neurosci (2005) 3.23
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins. Neuron (2004) 3.04
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Model-guided microarray implicates the retromer complex in Alzheimer's disease. Ann Neurol (2005) 3.01
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Resistance of alpha -synuclein null mice to the parkinsonian neurotoxin MPTP. Proc Natl Acad Sci U S A (2002) 2.64
Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature. Hum Mol Genet (2003) 2.64
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nat Cell Biol (2002) 2.50
Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron (2003) 2.50
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet (2012) 2.45
Persistent amyloidosis following suppression of Abeta production in a transgenic model of Alzheimer disease. PLoS Med (2005) 2.43
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem (2006) 2.34
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Direct quantification of CSF alpha-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration. Exp Neurol (2008) 2.31
Episodic-like memory deficits in the APPswe/PS1dE9 mouse model of Alzheimer's disease: relationships to beta-amyloid deposition and neurotransmitter abnormalities. Neurobiol Dis (2005) 2.22
Benefit of ventriculoperitoneal cerebrospinal fluid shunting and intrathecal chemotherapy in neoplastic meningitis: a retrospective, case-controlled study. J Neurosurg (2011) 2.21
Environmental enrichment exacerbates amyloid plaque formation in a transgenic mouse model of Alzheimer disease. J Neuropathol Exp Neurol (2003) 2.20
Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr Biol (2009) 2.19
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet (2011) 2.12
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature (2010) 2.10
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A (2010) 2.10
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med (2008) 2.10
High molecular weight complexes of mutant superoxide dismutase 1: age-dependent and tissue-specific accumulation. Neurobiol Dis (2002) 2.09
Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway. Mol Cell Biol (2009) 2.06
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch Neurol (2009) 2.06
Minocycline inhibits caspase-independent and -dependent mitochondrial cell death pathways in models of Huntington's disease. Proc Natl Acad Sci U S A (2003) 2.05
Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease. J Neurosci (2002) 2.05
Environmental enrichment mitigates cognitive deficits in a mouse model of Alzheimer's disease. J Neurosci (2005) 2.03
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Ann Neurol (2011) 2.01
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum Mol Genet (2005) 1.96
Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site. Neurobiol Dis (2002) 1.96
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol (2006) 1.94
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet (2005) 1.94
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet (2003) 1.92
Inhibition of HIV transmission in human cervicovaginal explants and humanized mice using CD4 aptamer-siRNA chimeras. J Clin Invest (2011) 1.92
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet (2003) 1.85
A cell-based assay for aggregation inhibitors as therapeutics of polyglutamine-repeat disease and validation in Drosophila. Proc Natl Acad Sci U S A (2003) 1.84
Implanted neural electrodes cause chronic, local inflammation that is correlated with local neurodegeneration. J Neural Eng (2009) 1.80
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. Hum Mol Genet (2009) 1.79
HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. Hum Mol Genet (2002) 1.79
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol (2009) 1.78
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet (2003) 1.72
Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci (2006) 1.72
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA. Neurobiol Dis (2005) 1.69
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS. Proc Natl Acad Sci U S A (2009) 1.67
Genetically engineered mouse models of neurodegenerative diseases. Nat Neurosci (2002) 1.66
A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis. J Biol Chem (2008) 1.65
Single-step detection of mutant huntingtin in animal and human tissues: a bioassay for Huntington's disease. Anal Biochem (2009) 1.64
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Minocycline inhibits contusion-triggered mitochondrial cytochrome c release and mitigates functional deficits after spinal cord injury. Proc Natl Acad Sci U S A (2004) 1.63
Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation. Hum Mol Genet (2005) 1.63
Additive neuroprotective effects of minocycline with creatine in a mouse model of ALS. Ann Neurol (2003) 1.63
Mapping superoxide dismutase 1 domains of non-native interaction: roles of intra- and intermolecular disulfide bonding in aggregation. J Neurochem (2006) 1.59
Lipopolysaccharide-induced-neuroinflammation increases intracellular accumulation of amyloid precursor protein and amyloid beta peptide in APPswe transgenic mice. Neurobiol Dis (2003) 1.59
Caspase cascades in human immunodeficiency virus-associated neurodegeneration. J Neurosci (2002) 1.58
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet (2004) 1.58
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis (2008) 1.58
Chiari I malformation as a cause of trigeminal neuralgia: case report. Neurosurgery (2008) 1.57
Differential diagnosis of parkinsonism: a metabolic imaging study using pattern analysis. Lancet Neurol (2010) 1.56
Increased generation of granule cells in adult Bcl-2-overexpressing mice: a role for cell death during continued hippocampal neurogenesis. Eur J Neurosci (2005) 1.53
Comment on "ApoE-directed therapeutics rapidly clear β-amyloid and reverse deficits in AD mouse models". Science (2013) 1.50
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J Biol Chem (2001) 1.46
Ex vivo cultures of microglia from young and aged rodent brain reveal age-related changes in microglial function. Neurobiol Aging (2010) 1.45
Amyloid pathology is associated with progressive monoaminergic neurodegeneration in a transgenic mouse model of Alzheimer's disease. J Neurosci (2008) 1.44
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord (2008) 1.41