Published in Curr Opin Genet Dev on April 01, 2009
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Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Yeast Ataxin-7 links histone deubiquitination with gene gating and mRNA export. Nat Cell Biol (2008) 2.27
Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol (2006) 2.12
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
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The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains. J Biol Chem (2008) 2.09
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet (2007) 2.06
Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci U S A (2005) 1.97
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet (2005) 1.90
Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation. Neurobiol Dis (2008) 1.66
Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proc Natl Acad Sci U S A (2005) 1.62
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FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons. Neurobiol Dis (2008) 1.43
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet (2006) 1.43
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat 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
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C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum Mol Genet (2006) 1.24
Rush hour at the promoter: how the ubiquitin-proteasome pathway polices the traffic flow of nuclear receptor-dependent transcription. J Steroid Biochem Mol Biol (2005) 1.23
The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology (2006) 1.20
Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation. J Neurosci (2006) 1.19
The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission. J Biol Chem (2008) 1.15
Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell Signal (2008) 1.06
Transcriptional alterations and chromatin remodeling in polyglutamine diseases. Trends Genet (2006) 1.04
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. J Cell Sci (2008) 1.03
Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells. Mol Cell Neurosci (2006) 1.02
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology (2004) 0.99
Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity. J Biol Chem (2008) 0.98
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet (2008) 0.87
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Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse. Biochem Biophys Res Commun (2008) 0.80
A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry (2008) 0.78
RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med (2004) 4.63
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
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature (2008) 3.68
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell (2006) 3.39
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell (2006) 2.80
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
Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci (2004) 2.29
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell (2005) 2.09
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
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miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci (2008) 1.89
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Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet (2004) 1.61
SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron (2010) 1.56
Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med (2007) 1.52
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet (2010) 1.42
Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. J Neurosci (2013) 1.41
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
Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis. J Biol Chem (2003) 1.28
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RNA association and nucleocytoplasmic shuttling by ataxin-1. J Cell Sci (2005) 1.21
SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. J Biol Chem (2005) 1.15
ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell (2011) 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
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Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1. J Neurosci (2011) 1.08
Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. Genet Epidemiol (2008) 1.06
Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. J Neurosci (2006) 1.04
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
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet (2003) 1.00
Generation and characterization of LANP/pp32 null mice. Mol Cell Biol (2004) 1.00
Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A (2011) 0.96
The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up. J Biol Chem (2004) 0.95
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
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Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. J Neurosci (2013) 0.87
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Neurodegenerative disease: neuron protection agency. Nature (2004) 0.81
Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Neuromolecular Med (2002) 0.81
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Genome-wide linkage analysis of obsessive-compulsive disorder implicates chromosome 1p36. Biol Psychiatry (2012) 0.75
A proposed mechanism of ALS fails the test in vivo. Nat Neurosci (2002) 0.75