Published in J Neurosci on October 06, 2004
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Increased susceptibility of cytoplasmic over nuclear polyglutamine aggregates to autophagic degradation. Proc Natl Acad Sci U S A (2005) 2.69
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Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Hum Mol Genet (2011) 1.02
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The role of ALFY in selective autophagy. Cell Death Differ (2012) 1.00
Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. Hum Mol Genet (2012) 1.00
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Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice. PLoS One (2013) 0.96
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Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice. Mol Ther (2013) 0.94
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In vivo monitoring of recovery from neurodegeneration in conditional transgenic SCA1 mice. Exp Neurol (2011) 0.92
Phosphorylation of ATXN1 at Ser776 in the cerebellum. J Neurochem (2009) 0.91
Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8. Proc Natl Acad Sci U S A (2012) 0.91
Oligonucleotide-based strategies to combat polyglutamine diseases. Nucleic Acids Res (2014) 0.90
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
Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. J Neurosci (2013) 0.87
Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. J Neurosci (2014) 0.86
Association between proton magnetic resonance spectroscopy measurements and CAG repeat number in patients with spinocerebellar ataxias 2, 3, or 6. PLoS One (2012) 0.85
ETS1 regulates the expression of ATXN2. Hum Mol Genet (2012) 0.84
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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
Getting a handle on Huntington's disease: silencing neurodegeneration. Nat Med (2009) 0.82
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
Recent advances in RNA interference therapeutics for CNS diseases. Neurotherapeutics (2013) 0.81
Development of targeted therapies for Parkinson's disease and related synucleinopathies. J Lipid Res (2014) 0.80
SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis. Prog Neurobiol (2012) 0.80
Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy. Brain (2015) 0.80
Phosphorylation of NBR1 by GSK3 modulates protein aggregation. Autophagy (2014) 0.78
An efficient method for the long-term and specific expression of exogenous cDNAs in cultured Purkinje neurons. J Neurosci Methods (2011) 0.78
Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase. Nat Commun (2016) 0.77
RNAi prevents and reverses phenotypes induced by mutant human ataxin-1. Ann Neurol (2016) 0.77
Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat. PLoS One (2015) 0.76
Mouse models of Machado-Joseph disease and other polyglutamine spinocerebellar ataxias. NeuroRx (2005) 0.76
Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1. Sci Rep (2015) 0.76
Type-1 metabotropic glutamate receptor signaling in cerebellar Purkinje cells in health and disease. F1000Res (2017) 0.75
New old drug(s) for spinocerebellar ataxias. J Physiol (2017) 0.75
New hope for therapy in neurodegenerative diseases. Cell Res (2013) 0.75
Tetracycline inducible gene manipulation in serotonergic neurons. PLoS One (2012) 0.75
Modulation, Plasticity and Pathophysiology of the Parallel Fiber-Purkinje Cell Synapse. Front Synaptic Neurosci (2016) 0.75
Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology. Neurobiol Dis (2014) 0.75
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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
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
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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
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
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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
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell (2006) 2.80
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
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
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev (2013) 1.70
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet (2011) 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
Six-month partial suppression of Huntingtin is well tolerated in the adult rhesus striatum. Brain (2012) 1.49
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
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet (2007) 1.30
Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov Disord (2010) 1.30