Published in Cell on November 17, 2006
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature (2008) 3.68
Retinoid-related orphan receptors (RORs): critical roles in development, immunity, circadian rhythm, and cellular metabolism. Nucl Recept Signal (2009) 3.19
Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem (2008) 1.92
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A (2009) 1.66
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci (2009) 1.59
SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron (2010) 1.56
Cerebellar development and disease. Curr Opin Neurobiol (2008) 1.53
Aggregation of polyQ-extended proteins is promoted by interaction with their natural coiled-coil partners. Bioessays (2013) 1.48
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet (2010) 1.42
Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment. Brain (2010) 1.35
The spinocerebellar ataxias. J Neuroophthalmol (2009) 1.30
The unstable repeats--three evolving faces of neurological disease. Neuron (2013) 1.26
Cell biology of spinocerebellar ataxia. J Cell Biol (2012) 1.19
Emerging pathogenic pathways in the spinocerebellar ataxias. Curr Opin Genet Dev (2009) 1.17
Suppression of the novel ER protein Maxer by mutant ataxin-1 in Bergman glia contributes to non-cell-autonomous toxicity. EMBO J (2010) 1.14
Polyglutamine neurodegeneration: expanded glutamines enhance native functions. Curr Opin Genet Dev (2012) 1.13
Maintenance of postmitotic neuronal cell identity. Nat Neurosci (2014) 1.12
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. Cerebellum (2012) 1.12
Noninvasive detection of presymptomatic and progressive neurodegeneration in a mouse model of spinocerebellar ataxia type 1. J Neurosci (2010) 1.12
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A (2008) 1.11
Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors. PLoS One (2009) 1.11
The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. EMBO Rep (2007) 1.07
Conserved genes act as modifiers of invertebrate SMN loss of function defects. PLoS Genet (2010) 1.07
Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxias. Neurochem Res (2011) 1.04
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Hum Mol Genet (2011) 1.02
Abnormalities in the climbing fiber-Purkinje cell circuitry contribute to neuronal dysfunction in ATXN1[82Q] mice. J Neurosci (2011) 1.01
New roles for the cerebellum in health and disease. Front Syst Neurosci (2013) 0.96
14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus. J Biol Chem (2011) 0.94
Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy. Mol Ther (2013) 0.94
The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia. Cerebellum (2014) 0.94
Natural killer T-cell characterization through gene expression profiling: an account of versatility bridging T helper type 1 (Th1), Th2 and Th17 immune responses. Immunology (2007) 0.91
Phosphorylation of ATXN1 at Ser776 in the cerebellum. J Neurochem (2009) 0.91
Oligonucleotide-based strategies to combat polyglutamine diseases. Nucleic Acids Res (2014) 0.90
Nuclear receptor unfulfilled regulates axonal guidance and cell identity of Drosophila mushroom body neurons. PLoS One (2009) 0.90
Consensus Paper: Cerebellar Development. Cerebellum (2016) 0.89
Cellular and circuit mechanisms underlying spinocerebellar ataxias. J Physiol (2016) 0.88
Are Type 1 metabotropic glutamate receptors a viable therapeutic target for the treatment of cerebellar ataxia? J Physiol (2016) 0.88
Characterization of the zebrafish atxn1/axh gene family. J Neurogenet (2008) 0.87
Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. J Neurosci (2013) 0.87
Epigenetics in nucleotide repeat expansion disorders. Semin Neurol (2012) 0.85
Altered Purkinje cell miRNA expression and SCA1 pathogenesis. Neurobiol Dis (2013) 0.85
Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17. Hum Mol Genet (2009) 0.85
Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias. Brain Res Bull (2011) 0.84
Mouse models of polyglutamine diseases: review and data table. Part I. Mol Neurobiol (2012) 0.84
Neuronal glutamate transporters regulate glial excitatory transmission. J Neurosci (2012) 0.84
Genes and genetic testing in hereditary ataxias. Genes (Basel) (2014) 0.83
Mutant SOD1 knockdown in all cell types ameliorates disease in G85R SOD1 mice with a limited additional effect over knockdown restricted to motor neurons. J Neurochem (2010) 0.83
Leucine-rich repeat kinase 2 modulates retinoic acid-induced neuronal differentiation of murine embryonic stem cells. PLoS One (2011) 0.83
Purkinje cell dysfunction and loss in a knock-in mouse model of Huntington disease. Exp Neurol (2012) 0.83
Disruption of metabotropic glutamate receptor signalling is a major defect at cerebellar parallel fibre-Purkinje cell synapses in staggerer mutant mice. J Physiol (2011) 0.83
Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia. Open Biol (2015) 0.82
An out-of-frame overlapping reading frame in the ataxin-1 coding sequence encodes a novel ataxin-1 interacting protein. J Biol Chem (2013) 0.82
LANP mediates neuritic pathology in Spinocerebellar ataxia type 1. Neurobiol Dis (2012) 0.82
Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia. Front Neurosci (2015) 0.82
Polyglutamine expansion accelerates the dynamics of ataxin-1 and does not result in aggregate formation. PLoS One (2008) 0.81
Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration. Cerebellum (2011) 0.81
The promise and perils of HDAC inhibitors in neurodegeneration. Ann Clin Transl Neurol (2014) 0.81
Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development. Dis Model Mech (2012) 0.81
Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. J Physiol (2016) 0.81
Glial cell lineage expression of mutant ataxin-1 and huntingtin induces developmental and late-onset neuronal pathologies in Drosophila models. PLoS One (2009) 0.81
The histone deacetylase HDAC3 is essential for Purkinje cell function, potentially complicating the use of HDAC inhibitors in SCA1. Hum Mol Genet (2014) 0.80
The importance of serine 776 in Ataxin-1 partner selection: a FRET analysis. Sci Rep (2012) 0.80
Genomic Analysis Reveals Disruption of Striatal Neuronal Development and Therapeutic Targets in Human Huntington's Disease Neural Stem Cells. Stem Cell Reports (2015) 0.80
Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy. Brain (2015) 0.80
Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways. Neuron (2016) 0.79
Nuclear ataxias. Cold Spring Harb Perspect Biol (2010) 0.79
Protein-protein interactions as a strategy towards protein-specific drug design: the example of ataxin-1. PLoS One (2013) 0.79
Systematic analysis of fly models with multiple drivers reveals different effects of ataxin-1 and huntingtin in neuron subtype-specific expression. PLoS One (2014) 0.78
Kaleidoscopic protein-protein interactions in the life and death of ataxin-1: new strategies against protein aggregation. Trends Neurosci (2014) 0.78
Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PLoS One (2012) 0.78
Neurodegeneration: a case of arrested development? Cell (2006) 0.77
Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway. Cerebellum (2017) 0.77
Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1. Sci Rep (2015) 0.76
Postnatal and adult consequences of loss of huntingtin during development: Implications for Huntington's disease. Neurobiol Dis (2016) 0.76
Neurodegenerative disease: 'fifty shades of grey' in the Huntington disease gene. Nat Rev Neurol (2013) 0.76
Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases. J Exp Neurosci (2016) 0.76
Mapping the self-association domains of ataxin-1: identification of novel non overlapping motifs. PeerJ (2014) 0.75
Modulation of Molecular Chaperones in Huntington's Disease and Other Polyglutamine Disorders. Mol Neurobiol (2016) 0.75
RORA and Autism in The Isfahan Population: Is There An Epigenetic Relationship. Cell J (2016) 0.75
Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report. Transl Neurodegener (2016) 0.75
An update on Spino-cerebellar ataxias. Ann Indian Acad Neurol (2013) 0.75
Type-1 metabotropic glutamate receptor signaling in cerebellar Purkinje cells in health and disease. F1000Res (2017) 0.75
Polyglutamine spinocerebellar ataxias - from genes to potential treatments. Nat Rev Neurosci (2017) 0.75
Motor and Cerebellar Architectural Abnormalities during the Early Progression of Ataxia in a Mouse Model of SCA1 and How Early Prevention Leads to a Better Outcome Later in Life. Front Cell Neurosci (2017) 0.75
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Front Mol Neurosci (2017) 0.75
Towards a proteome-scale map of the human protein-protein interaction network. Nature (2005) 24.76
MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (2008) 10.11
Trinucleotide repeat disorders. Annu Rev Neurosci (2007) 9.45
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell (2006) 8.61
The story of Rett syndrome: from clinic to neurobiology. Neuron (2007) 8.08
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature (2010) 5.11
Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet (2005) 4.66
RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med (2004) 4.63
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet (2004) 4.45
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron (2007) 4.15
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet (2006) 3.87
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
Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci (2006) 3.69
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature (2008) 3.68
Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A (2010) 3.58
The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. Development (2002) 3.41
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell (2006) 3.39
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet (2002) 3.12
The basics of translation. Science (2013) 3.00
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature (2008) 2.98
Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes Dev (2005) 2.94
Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron (2005) 2.93
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A (2005) 2.90
Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology (2007) 2.79
Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev (2006) 2.71
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet (2004) 2.61
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell (2003) 2.50
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron (2003) 2.39
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development (2003) 2.38
Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron (2008) 2.36
Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci (2004) 2.29
Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A (2006) 2.25
Merkel cells are essential for light-touch responses. Science (2009) 2.24
Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron (2009) 2.23
A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet (2008) 2.13
Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol (2006) 2.12
Adult neural function requires MeCP2. Science (2011) 2.09
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell (2005) 2.09
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol (2009) 2.07
Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04
The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci U S A (2007) 2.01
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet (2009) 2.00
A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron (2002) 1.97
Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science (2011) 1.96
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet (2011) 1.93
Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem (2008) 1.92
miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci (2008) 1.89
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature (2013) 1.86
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A (2009) 1.79
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron (2012) 1.78
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet (2010) 1.76
Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet (2005) 1.73
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet (2011) 1.70
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev (2013) 1.70
X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet (2004) 1.69
Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech (2012) 1.66
Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle. Genes Dev (2006) 1.65
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron (2003) 1.64
Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet (2004) 1.61
Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Sci Transl Med (2012) 1.56
SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron (2010) 1.56
CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. J Biol Chem (2006) 1.55
Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med (2007) 1.52
Solving the autism puzzle a few pieces at a time. Neuron (2011) 1.48
In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proc Natl Acad Sci U S A (2011) 1.44
Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality. J Cell Biol (2003) 1.44
Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma. Science (2009) 1.42
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet (2010) 1.42
Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet (2002) 1.42
Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. J Neurosci (2013) 1.41
Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist (2004) 1.40
dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet (2007) 1.38
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A (2008) 1.34
Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1. Proc Natl Acad Sci U S A (2009) 1.32
Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov Disord (2010) 1.30
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet (2007) 1.30
The GSK3 beta signaling cascade and neurodegenerative disease. Curr Opin Neurobiol (2002) 1.29