Published in J Neurosci on July 11, 2007
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J (2009) 2.37
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain (2009) 1.66
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci (2008) 1.44
Toward understanding Machado-Joseph disease. Prog Neurobiol (2011) 1.42
Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy. Hum Mol Genet (2009) 1.32
Cell biology of spinocerebellar ataxia. J Cell Biol (2012) 1.19
Balancing act: deubiquitinating enzymes in the nervous system. Trends Neurosci (2011) 1.17
Emerging pathogenic pathways in the spinocerebellar ataxias. Curr Opin Genet Dev (2009) 1.17
Decreased survival and hepato-renal pathology in mice with C-terminally truncated GP73 (GOLPH2). Int J Clin Exp Pathol (2008) 1.15
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Proteotoxic stress increases nuclear localization of ataxin-3. Hum Mol Genet (2009) 1.02
Autophagy and polyglutamine diseases. Prog Neurobiol (2011) 1.02
Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways. Hum Mol Genet (2011) 1.00
Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia. EMBO Rep (2008) 1.00
Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice. PLoS One (2013) 0.96
Axonal inclusions in spinocerebellar ataxia type 3. Acta Neuropathol (2010) 0.91
Splice isoforms of the polyglutamine disease protein ataxin-3 exhibit similar enzymatic yet different aggregation properties. PLoS One (2010) 0.91
Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease. Neurotherapeutics (2014) 0.90
Trinucleotide repeats: a structural perspective. Front Neurol (2013) 0.89
Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice. Neurogenetics (2010) 0.85
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Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias. Brain Res Bull (2011) 0.84
Mouse ataxin-3 functional knock-out model. Neuromolecular Med (2010) 0.84
Nuclear aggregation of polyglutamine-expanded ataxin-3: fragments escape the cytoplasmic quality control. J Biol Chem (2010) 0.83
Pathology and function of nuclear amyloid. Protein homeostasis matters. Nucleus (2014) 0.83
Therapeutic prospects for spinocerebellar ataxia type 2 and 3. Drugs Future (2009) 0.82
Compromised mitochondrial complex II in models of Machado-Joseph disease. Biochim Biophys Acta (2011) 0.82
From pathways to targets: understanding the mechanisms behind polyglutamine disease. Biomed Res Int (2014) 0.81
DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6. Hum Mol Genet (2015) 0.81
Valosin-containing protein (VCP/p97) is an activator of wild-type ataxin-3. PLoS One (2012) 0.81
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Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). Neurotherapeutics (2012) 0.80
A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript. Hum Mol Genet (2014) 0.80
Nucleocytoplasmic shuttling activity of ataxin-3. PLoS One (2009) 0.79
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients. Hum Mol Genet (2017) 0.77
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins. Mol Neurodegener (2016) 0.77
RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. PLoS One (2014) 0.76
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment. Sci Rep (2016) 0.76
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease. Hum Mol Genet (2016) 0.75
Modulation of Molecular Chaperones in Huntington's Disease and Other Polyglutamine Disorders. Mol Neurobiol (2016) 0.75
Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease. Mol Ther (2017) 0.75
Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. PLoS One (2013) 0.75
Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. Front Neurol (2017) 0.75
Polyglutamine spinocerebellar ataxias - from genes to potential treatments. Nat Rev Neurosci (2017) 0.75
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Retracted Generation of pluripotent stem cells from adult human testis. Nature (2008) 5.49
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology. EMBO Rep (2006) 4.06
Peripherally applied Abeta-containing inoculates induce cerebral beta-amyloidosis. Science (2010) 3.98
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol (2004) 3.83
Protein abundance profiling of the Escherichia coli cytosol. BMC Genomics (2008) 3.78
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet (2010) 3.73
SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55
CORUM: the comprehensive resource of mammalian protein complexes. Nucleic Acids Res (2007) 3.23
Wnt/beta-catenin signaling controls development of the blood-brain barrier. J Cell Biol (2008) 3.22
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. Nat Genet (2002) 2.87
Formation and maintenance of Alzheimer's disease beta-amyloid plaques in the absence of microglia. Nat Neurosci (2009) 2.85
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet (2010) 2.81
The conditional inactivation of the beta-catenin gene in endothelial cells causes a defective vascular pattern and increased vascular fragility. J Cell Biol (2003) 2.77
Viscoelastic properties of individual glial cells and neurons in the CNS. Proc Natl Acad Sci U S A (2006) 2.64
Formation of tight junction: determinants of homophilic interaction between classic claudins. FASEB J (2007) 2.43
Noninvasive in vivo imaging of pancreatic islet cell biology. Nat Med (2008) 2.41
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J (2009) 2.37
The dynamic architecture of the metabolic switch in Streptomyces coelicolor. BMC Genomics (2010) 2.37
Progression-specific genes identified by expression profiling of matched ductal carcinomas in situ and invasive breast tumors, combining laser capture microdissection and oligonucleotide microarray analysis. Cancer Res (2006) 2.36
ProfCom: a web tool for profiling the complex functionality of gene groups identified from high-throughput data. Nucleic Acids Res (2008) 2.33
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet (2005) 2.28
Histone H2AX-dependent GABA(A) receptor regulation of stem cell proliferation. Nature (2008) 2.24
Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3. Science (2002) 2.24
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
Molecular outcomes of neuromyelitis optica (NMO)-IgG binding to aquaporin-4 in astrocytes. Proc Natl Acad Sci U S A (2011) 2.11
No effect of the transforming growth factor β1 promoter polymorphism C-509T on TGFB1 gene expression, protein secretion, or cellular radiosensitivity. Int J Radiat Oncol Biol Phys (2012) 2.06
Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet (2002) 2.06
Mini-review: Transendothelial migration of leukocytes: through the front door or around the side of the house? Eur J Immunol (2004) 2.03
14-3-3 proteins in the nervous system. Nat Rev Neurosci (2003) 2.02
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet (2010) 2.00
TREM2 is upregulated in amyloid plaque-associated microglia in aged APP23 transgenic mice. Glia (2008) 1.97
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
The PEDANT genome database in 2005. Nucleic Acids Res (2005) 1.88
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain (2007) 1.82
Peeling of the basal membrane in the human retina: ultrastructural effects. Ophthalmology (2004) 1.80
Parkinson patient fibroblasts show increased alpha-synuclein expression. Exp Neurol (2008) 1.79
Transferrin receptor upregulation: in vitro labeling of rat mesenchymal stem cells with superparamagnetic iron oxide. Radiology (2007) 1.79
Coxsackievirus-adenovirus receptor (CAR) is essential for early embryonic cardiac development. J Cell Sci (2005) 1.79
Development of the zebrafish lymphatic system requires VEGFC signaling. Curr Biol (2006) 1.78
Protein kinase CK2 is coassembled with small conductance Ca(2+)-activated K+ channels and regulates channel gating. Neuron (2004) 1.77
Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome. Am J Cardiol (2013) 1.68
Deletion of the Ca2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing loss. Proc Natl Acad Sci U S A (2004) 1.67
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain (2009) 1.66
Transgenic rat model of Huntington's disease. Hum Mol Genet (2003) 1.66
Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. PLoS One (2010) 1.62
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat (2010) 1.59
Functional significance of channels and transporters expressed in the inner ear and kidney. Am J Physiol Cell Physiol (2007) 1.57
Defective associations between blood vessels and brain parenchyma lead to cerebral hemorrhage in mice lacking alphav integrins. Mol Cell Biol (2002) 1.55
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet (2005) 1.54
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord (2005) 1.54
Developmental regulation of nicotinic synapses on cochlear inner hair cells. J Neurosci (2004) 1.54
Tonotopic variation in the calcium dependence of neurotransmitter release and vesicle pool replenishment at mammalian auditory ribbon synapses. J Neurosci (2008) 1.53
Vascular endothelial cell-specific phosphotyrosine phosphatase (VE-PTP) activity is required for blood vessel development. Blood (2006) 1.50
ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish. Hum Mol Genet (2008) 1.47
A transmembrane tight junction protein selectively expressed on endothelial cells and platelets. J Biol Chem (2002) 1.45
Heparan sulfation-dependent fibroblast growth factor signaling maintains embryonic stem cells primed for differentiation in a heterogeneous state. Stem Cells (2010) 1.44
Resting potential and submembrane calcium concentration of inner hair cells in the isolated mouse cochlea are set by KCNQ-type potassium channels. J Neurosci (2003) 1.44
Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol (2003) 1.43
Differential gene expression in periportal and perivenous mouse hepatocytes. FEBS J (2006) 1.41
Thyroid hormone deficiency affects postnatal spiking activity and expression of Ca2+ and K+ channels in rodent inner hair cells. J Neurosci (2007) 1.39
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet (2005) 1.38
Elementary properties of CaV1.3 Ca(2+) channels expressed in mouse cochlear inner hair cells. J Physiol (2009) 1.35
A distinct PAR complex associates physically with VE-cadherin in vertebrate endothelial cells. EMBO Rep (2006) 1.35
Position-dependent patterning of spontaneous action potentials in immature cochlear inner hair cells. Nat Neurosci (2011) 1.33
Persistence of Ca(v)1.3 Ca2+ channels in mature outer hair cells supports outer hair cell afferent signaling. J Neurosci (2007) 1.33
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat (2009) 1.30
Will my protein crystallize? A sequence-based predictor. Proteins (2006) 1.30
Advances in the neurobiology of hearing disorders: recent developments regarding the basis of tinnitus and hyperacusis. Prog Neurobiol (2013) 1.30
Current concepts of blood-brain barrier development. Int J Dev Biol (2011) 1.29
A CD99-related antigen on endothelial cells mediates neutrophil but not lymphocyte extravasation in vivo. Blood (2007) 1.29
Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease. Proc Natl Acad Sci U S A (2004) 1.29
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol (2003) 1.29
Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease. J Neurosci (2008) 1.28
High levels of the onco-protein Gfi-1 accelerate T-cell proliferation and inhibit activation induced T-cell death in Jurkat T-cells. Oncogene (2002) 1.26
Redistribution of aquaporin-4 in human glioblastoma correlates with loss of agrin immunoreactivity from brain capillary basal laminae. Acta Neuropathol (2004) 1.25
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke (2013) 1.25
Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease. Hum Mol Genet (2006) 1.25
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat (2004) 1.25
Synaptotagmin IV determines the linear Ca2+ dependence of vesicle fusion at auditory ribbon synapses. Nat Neurosci (2009) 1.24
A potassium channel-linked mechanism of glial cell swelling in the postischemic retina. Mol Cell Neurosci (2004) 1.23
Enhanced episodic-like memory and kindling epilepsy in a rat model of tuberous sclerosis. J Neurochem (2005) 1.23
Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum Mol Genet (2008) 1.23
Thyroid hormone is a critical determinant for the regulation of the cochlear motor protein prestin. Proc Natl Acad Sci U S A (2002) 1.22