Published in Hum Mol Genet on August 22, 2005
Ageing and neuronal vulnerability. Nat Rev Neurosci (2006) 3.36
Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes. Cell Stem Cell (2012) 2.55
Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage. Hum Mol Genet (2011) 2.34
PGC-1α rescues Huntington's disease proteotoxicity by preventing oxidative stress and promoting TFEB function. Sci Transl Med (2012) 2.07
Effects of overexpression of huntingtin proteins on mitochondrial integrity. Hum Mol Genet (2008) 1.98
Role of manganese in neurodegenerative diseases. J Trace Elem Med Biol (2011) 1.73
Complex II inhibition by 3-NP causes mitochondrial fragmentation and neuronal cell death via an NMDA- and ROS-dependent pathway. Cell Death Differ (2009) 1.66
Impaired PGC-1alpha function in muscle in Huntington's disease. Hum Mol Genet (2009) 1.63
Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet (2008) 1.56
Impaired ubiquitin-proteasome system activity in the synapses of Huntington's disease mice. J Cell Biol (2008) 1.51
Energy deficit in Huntington disease: why it matters. J Clin Invest (2011) 1.51
Abnormal mitochondrial dynamics and neurodegenerative diseases. Biochim Biophys Acta (2009) 1.49
Mitochondrial approaches for neuroprotection. Ann N Y Acad Sci (2008) 1.48
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord (2008) 1.41
Neurochemical changes in Huntington R6/2 mouse striatum detected by in vivo 1H NMR spectroscopy. J Neurochem (2007) 1.38
Mitochondrial structural and functional dynamics in Huntington's disease. Brain Res Rev (2009) 1.37
Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet (2009) 1.32
Cardiac dysfunction in the R6/2 mouse model of Huntington's disease. Neurobiol Dis (2006) 1.31
Deletion of the huntingtin polyglutamine stretch enhances neuronal autophagy and longevity in mice. PLoS Genet (2010) 1.30
Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington disease. EMBO Mol Med (2010) 1.27
Differential vulnerability of neurons in Huntington's disease: the role of cell type-specific features. J Neurochem (2010) 1.25
Mitochondrial medicine for aging and neurodegenerative diseases. Neuromolecular Med (2008) 1.22
Targets for future clinical trials in Huntington's disease: what's in the pipeline? Mov Disord (2014) 1.21
Mitochondria as a therapeutic target for aging and neurodegenerative diseases. Curr Alzheimer Res (2011) 1.17
Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet (2007) 1.17
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry (2010) 1.16
Mutant huntingtin, abnormal mitochondrial dynamics, defective axonal transport of mitochondria, and selective synaptic degeneration in Huntington's disease. Biochim Biophys Acta (2011) 1.16
Impairment of PGC-1alpha expression, neuropathology and hepatic steatosis in a transgenic mouse model of Huntington's disease following chronic energy deprivation. Hum Mol Genet (2010) 1.14
Shaping the role of mitochondria in the pathogenesis of Huntington's disease. EMBO J (2012) 1.11
Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease. Hum Mol Genet (2011) 1.10
Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo. J Neurosci (2010) 1.10
Mechanisms of copper ion mediated Huntington's disease progression. PLoS One (2007) 1.08
Role of mitochondrial dysfunction in the pathogenesis of Huntington's disease. Brain Res Bull (2009) 1.07
Early alterations of brain cellular energy homeostasis in Huntington disease models. J Biol Chem (2011) 1.05
HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet (2011) 1.04
Huntington's disease accelerates epigenetic aging of human brain and disrupts DNA methylation levels. Aging (Albany NY) (2016) 1.00
PGC-1α at the intersection of bioenergetics regulation and neuron function: from Huntington's disease to Parkinson's disease and beyond. Prog Neurobiol (2011) 1.00
S-nitrosylation of critical protein thiols mediates protein misfolding and mitochondrial dysfunction in neurodegenerative diseases. Antioxid Redox Signal (2011) 1.00
Disease-toxicant screen reveals a neuroprotective interaction between Huntington's disease and manganese exposure. J Neurochem (2009) 1.00
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. Proc Natl Acad Sci U S A (2010) 0.97
Increased mitochondrial fission and neuronal dysfunction in Huntington's disease: implications for molecular inhibitors of excessive mitochondrial fission. Drug Discov Today (2014) 0.97
S-nitrosylation of Drp1 links excessive mitochondrial fission to neuronal injury in neurodegeneration. Mitochondrion (2010) 0.96
Role of oxidative DNA damage in mitochondrial dysfunction and Huntington's disease pathogenesis. Free Radic Biol Med (2013) 0.94
Abnormal morphology of peripheral cell tissues from patients with Huntington disease. J Neural Transm (Vienna) (2009) 0.94
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet (2016) 0.93
Mitochondrial calcium uptake capacity as a therapeutic target in the R6/2 mouse model of Huntington's disease. Hum Mol Genet (2010) 0.92
PGC-1α, mitochondrial dysfunction, and Huntington's disease. Free Radic Biol Med (2013) 0.92
Elucidating a normal function of huntingtin by functional and microarray analysis of huntingtin-null mouse embryonic fibroblasts. BMC Neurosci (2008) 0.92
Meclizine is neuroprotective in models of Huntington's disease. Hum Mol Genet (2010) 0.92
D-β-hydroxybutyrate is protective in mouse models of Huntington's disease. PLoS One (2011) 0.92
The biological function of the Huntingtin protein and its relevance to Huntington's Disease pathology. Curr Trends Neurol (2011) 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
Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis. Hum Mol Genet (2011) 0.89
Metabolic state determines sensitivity to cellular stress in Huntington disease: normalization by activation of PPARγ. PLoS One (2012) 0.87
Mitochondrial matters of the brain: the role in Huntington's disease. J Bioenerg Biomembr (2010) 0.87
Homeostatic adaptations in brain energy metabolism in mouse models of Huntington disease. J Cereb Blood Flow Metab (2012) 0.86
A novel manganese-dependent ATM-p53 signaling pathway is selectively impaired in patient-based neuroprogenitor and murine striatal models of Huntington's disease. Hum Mol Genet (2014) 0.84
Early deficits in glycolysis are specific to striatal neurons from a rat model of huntington disease. PLoS One (2013) 0.84
Mutant Huntingtin and Elusive Defects in Oxidative Metabolism and Mitochondrial Calcium Handling. Mol Neurobiol (2015) 0.83
Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy. Hum Mol Genet (2013) 0.83
Protection by glia-conditioned medium in a cell model of Huntington disease. PLoS Curr (2012) 0.83
Mitochondrial division inhibitor 1 protects against mutant huntingtin-induced abnormal mitochondrial dynamics and neuronal damage in Huntington's disease. Hum Mol Genet (2015) 0.82
The cystic fibrosis transmembrane recruiter the alter ego of CFTR as a multi-kinase anchor. Pflugers Arch (2007) 0.82
Preclinical and clinical investigations of mood stabilizers for Huntington's disease: what have we learned? Int J Biol Sci (2014) 0.82
Mutant Huntingtin induces activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3). Cell Death Dis (2010) 0.82
Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease. Mol Neurobiol (2014) 0.82
HIV-1 transgenic rats display mitochondrial abnormalities consistent with abnormal energy generation and distribution. J Neurovirol (2016) 0.81
Preventing polyglutamine-induced activation of c-Jun delays neuronal dysfunction in a mouse model of SCA7 retinopathy. Neurobiol Dis (2006) 0.81
Huntingtin protein is essential for mitochondrial metabolism, bioenergetics and structure in murine embryonic stem cells. Dev Biol (2014) 0.80
DNA instability in replicating Huntington's disease lymphoblasts. BMC Med Genet (2009) 0.80
Huntington disease: a single-gene degenerative disorder of the striatum. Dialogues Clin Neurosci (2016) 0.79
The chicken or the egg: mitochondrial dysfunction as a cause or consequence of toxicity in Huntington's disease. Mech Ageing Dev (2016) 0.77
Metabolism in HD: still a relevant mechanism? Mov Disord (2014) 0.77
Metabolic disruption identified in the Huntington's disease transgenic sheep model. Sci Rep (2016) 0.77
Neurodegenerative disease: 'fifty shades of grey' in the Huntington disease gene. Nat Rev Neurol (2013) 0.76
HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation. PLoS One (2015) 0.76
Phenotyping patient-derived cells for translational studies in cardiovascular disease. Circulation (2011) 0.76
Abnormal Weight and Body Mass Index in Children with Juvenile Huntington's Disease. J Huntingtons Dis (2015) 0.76
HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes. PLoS One (2014) 0.76
Correlation of CAG repeat length between the maternal and paternal allele of the Huntingtin gene: evidence for assortative mating. Behav Brain Funct (2011) 0.75
Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease. Sci Rep (2017) 0.75
Comparison of modules of wild type and mutant Huntingtin and TP53 protein interaction networks: implications in biological processes and functions. PLoS One (2013) 0.75
Huntington's disease and mitochondrial alterations: emphasis on experimental models. J Bioenerg Biomembr (2010) 0.75
Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts. Metab Brain Dis (2017) 0.75
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
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
Melanoma genome sequencing reveals frequent PREX2 mutations. Nature (2012) 7.77
Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell (2011) 6.56
Telomere dysfunction induces metabolic and mitochondrial compromise. Nature (2011) 6.36
Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell (2004) 5.67
Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers. Nature (2007) 5.65
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
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet (2007) 5.02
Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell (2013) 4.45
Retracted Genetic signatures of exceptional longevity in humans. Science (2010) 4.33
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. N Engl J Med (2012) 4.26
A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet (2009) 3.78
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Genetic signatures of exceptional longevity in humans. PLoS One (2012) 3.20
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. J Clin Invest (2009) 3.17
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
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
GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer. Nature (2009) 2.77
Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway. PLoS Genet (2012) 2.63
A comparison of DNA copy number profiling platforms. Cancer Res (2007) 2.63
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron (2003) 2.50
The Nrf2/ARE pathway as a potential therapeutic target in neurodegenerative disease. Antioxid Redox Signal (2009) 2.49
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
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
Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release. Hum Mol Genet (2004) 2.31
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol (2012) 2.20
Changes in language pathways in patients with temporal lobe epilepsy: diffusion tensor imaging analysis of the uncinate and arcuate fasciculi. World Neurosurg (2011) 2.16
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
Brain size and cortical structure in the adult human brain. Cereb Cortex (2008) 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
A genome-wide scan for loci linked to plasma levels of glucose and HbA(1c) in a community-based sample of Caucasian pedigrees: The Framingham Offspring Study. Diabetes (2002) 1.99
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
Genomic alterations link Rho family of GTPases to the highly invasive phenotype of pancreas cancer. Proc Natl Acad Sci U S A (2008) 1.92
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet (2003) 1.92
Antitelomerase therapy provokes ALT and mitochondrial adaptive mechanisms in cancer. Cell (2012) 1.91
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
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
Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. Genet Epidemiol (2011) 1.78
Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease. J Neurosci (2007) 1.77
Framingham Heart Study genome-wide association: results for pulmonary function measures. BMC Med Genet (2007) 1.76
Telomerase reactivation following telomere dysfunction yields murine prostate tumors with bone metastases. Cell (2012) 1.75
The incidence and clinical impact of stent strut fractures developed after drug-eluting stent implantation. Int J Cardiol (2007) 1.73
Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci (2006) 1.72
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet (2003) 1.72
Defining functional SMA and pre-SMA subregions in human MFC using resting state fMRI: functional connectivity-based parcellation method. Neuroimage (2009) 1.69
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet (2002) 1.67
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Common and distinct genomic events in sporadic colorectal cancer and diverse cancer types. Cancer Res (2007) 1.60
Proton magnetic resonance spectroscopy in subjects with high genetic risk of schizophrenia: investigation of anterior cingulate, dorsolateral prefrontal cortex and thalamus. Schizophr Res (2009) 1.60
Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: the National Heart, Lung, and Blood Institute Family Heart Study. Am J Hum Genet (2001) 1.59
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis (2008) 1.58
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet (2004) 1.58
Short fusion versus long fusion for degenerative lumbar scoliosis. Eur Spine J (2008) 1.54
Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum Mol Genet (2009) 1.51
Gender difference analysis of cortical thickness in healthy young adults with surface-based methods. Neuroimage (2006) 1.50
Ocular vestibular evoked myogenic potentials induced by air-conducted sound in patients with acute brainstem lesions. Clin Neurophysiol (2012) 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
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Am J Respir Crit Care Med (2012) 1.49
Genetic loci influencing lung function: a genome-wide scan in the Framingham Study. Am J Respir Crit Care Med (2002) 1.47
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J Biol Chem (2001) 1.46
Linkage of the cholesterol 7alpha-hydroxylase gene and low-density lipoprotein cholesterol conditional on apolipoprotein E association: the National Heart, Lung, and Blood Institute Family Heart Study. Chin Med J (Engl) (2005) 1.42
Cortical thickness in single- versus multiple-domain amnestic mild cognitive impairment. Neuroimage (2007) 1.42
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord (2008) 1.41