Published in Mol Neurobiol on November 29, 2013
Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathol Appl Neurobiol (2015) 0.85
Drosophila as an In Vivo Model for Human Neurodegenerative Disease. Genetics (2015) 0.83
The neurogenetics of atypical parkinsonian disorders. Semin Neurol (2014) 0.79
Current understanding of the role of microRNAs in spinocerebellar ataxias. Cerebellum Ataxias (2014) 0.78
Common disease signatures from gene expression analysis in Huntington's disease human blood and brain. Orphanet J Rare Dis (2016) 0.76
Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3. Sci Rep (2016) 0.75
Assessing a peptidylic inhibitor-based therapeutic approach that simultaneously suppresses polyglutamine RNA- and protein-mediated toxicities in patient cells and Drosophila. Dis Model Mech (2016) 0.75
The leucine zipper: a hypothetical structure common to a new class of DNA binding proteins. Science (1988) 27.01
Antisense transcription in the mammalian transcriptome. Science (2005) 15.69
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet (2004) 14.31
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science (1997) 11.53
Mammalian caspases: structure, activation, substrates, and functions during apoptosis. Annu Rev Biochem (1999) 8.16
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet (1994) 7.07
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J (2000) 6.56
The antisense transcriptomes of human cells. Science (2008) 6.29
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell (1998) 6.24
Autophagy gone awry in neurodegenerative diseases. Nat Neurosci (2010) 4.72
Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis. Neuron (2012) 4.48
Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell (2005) 4.07
Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron (2003) 4.04
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet (2006) 3.87
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron (1997) 3.73
Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A (2010) 3.58
Hsp70 and hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils. Proc Natl Acad Sci U S A (2000) 3.43
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet (2004) 3.21
Allele-specific silencing of dominant disease genes. Proc Natl Acad Sci U S A (2003) 3.00
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature (1999) 2.97
First-in-humans trial of an RNA interference therapeutic targeting VEGF and KSP in cancer patients with liver involvement. Cancer Discov (2013) 2.88
Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. Blood (1995) 2.82
RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature (2008) 2.74
Minocycline and doxycycline are not beneficial in a model of Huntington's disease. Ann Neurol (2003) 2.57
MicroRNA pathways modulate polyglutamine-induced neurodegeneration. Mol Cell (2006) 2.55
The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis. Mov Disord (2012) 2.53
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem (2004) 2.52
Neurodegenerative diseases and oxidative stress. Biomed Pharmacother (2004) 2.44
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurol (2013) 2.43
Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron (1999) 2.41
Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation. J Cell Biol (1998) 2.37
A toxic monomeric conformer of the polyglutamine protein. Nat Struct Mol Biol (2007) 2.33
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem (1998) 2.23
CREB-binding protein sequestration by expanded polyglutamine. Hum Mol Genet (2000) 2.18
Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila. Hum Mol Genet (2000) 2.17
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet (2001) 2.13
The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity. Hum Mol Genet (2003) 2.13
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet (1996) 2.09
A field guide to ubiquitylation. Cell Mol Life Sci (2004) 2.09
The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains. J Biol Chem (2008) 2.09
An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron (2011) 2.00
Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3. J Cell Biol (2006) 2.00
VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration. Cell Death Differ (2001) 2.00
Caspase 3-cleaved N-terminal fragments of wild-type and mutant huntingtin are present in normal and Huntington's disease brains, associate with membranes, and undergo calpain-dependent proteolysis. Proc Natl Acad Sci U S A (2001) 1.99
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res (2001) 1.97
Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. Hum Mol Genet (1999) 1.95
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet (2000) 1.92
Co-chaperone CHIP associates with expanded polyglutamine protein and promotes their degradation by proteasomes. J Biol Chem (2005) 1.88
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature (2011) 1.87
Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism. Mol Cell (2005) 1.84
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol (1996) 1.77
Aggregate formation inhibits proteasomal degradation of polyglutamine proteins. Hum Mol Genet (2002) 1.73
Creatine in Huntington disease is safe, tolerable, bioavailable in brain and reduces serum 8OH2'dG. Neurology (2006) 1.73
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nat Struct Mol Biol (2011) 1.73
Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis. Mol Cell Biol (2003) 1.68
Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet (1995) 1.67
Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation. Neurobiol Dis (2008) 1.66
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain (2009) 1.66
Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology (1978) 1.66
Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity. J Neurochem (1999) 1.66
Ataxin-3 binds VCP/p97 and regulates retrotranslocation of ERAD substrates. Hum Mol Genet (2006) 1.66
Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic. Hum Mol Genet (2007) 1.66
The crystal structure of calcium-free human m-calpain suggests an electrostatic switch mechanism for activation by calcium. Proc Natl Acad Sci U S A (2000) 1.65
Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle. Genes Dev (2006) 1.65
The solution structure of the Josephin domain of ataxin-3: structural determinants for molecular recognition. Proc Natl Acad Sci U S A (2005) 1.62
Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy. Hum Mol Genet (2002) 1.62
The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation. Proc Natl Acad Sci U S A (2005) 1.60
Molecular clearance of ataxin-3 is regulated by a mammalian E4. EMBO J (2004) 1.57
Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol (1997) 1.55
Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein. J Neurosci (2003) 1.54
The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies. J Neurochem (2009) 1.52
Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Hum Mol Genet (2004) 1.52
CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA. Neuron (2011) 1.49
Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis. Proc Natl Acad Sci U S A (2002) 1.48
Aggregation of polyQ-extended proteins is promoted by interaction with their natural coiled-coil partners. Bioessays (2013) 1.48
Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord (1992) 1.46
Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain. Proc Natl Acad Sci U S A (2005) 1.46
Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3. EMBO J (2009) 1.46
An arginine/lysine-rich motif is crucial for VCP/p97-mediated modulation of ataxin-3 fibrillogenesis. EMBO J (2006) 1.45
A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration. J Neurosci (2004) 1.45
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci (2008) 1.44
CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res (2011) 1.42
Characterization of the structure and the amyloidogenic properties of the Josephin domain of the polyglutamine-containing protein ataxin-3. J Mol Biol (2004) 1.41
A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum Mol Genet (2011) 1.39
Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B. Hum Mol Genet (2000) 1.38
Ube2w and ataxin-3 coordinately regulate the ubiquitin ligase CHIP. Mol Cell (2011) 1.37
Clinical Trial of the Pan-Caspase Inhibitor, IDN-6556, in Human Liver Preservation Injury. Am J Transplant (2007) 1.36
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology (1996) 1.36
Defining the role of ubiquitin-interacting motifs in the polyglutamine disease protein, ataxin-3. J Biol Chem (2005) 1.34
Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease. PLoS One (2008) 1.34
Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci (2007) 1.34
Calpain inhibition: a therapeutic strategy targeting multiple disease states. Curr Pharm Des (2006) 1.33
Allele-specific RNA interference for neurological disease. Gene Ther (2006) 1.32
SCA3: neurological features, pathogenesis and animal models. Cerebellum (2008) 1.31
Splice modulating therapies for human disease. Cell (2012) 1.26
Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet (2011) 1.25
Inactivation of the mouse Atxn3 (ataxin-3) gene increases protein ubiquitination. Biochem Biophys Res Commun (2007) 1.24
Structural and functional analysis of ataxin-2 and ataxin-3. Eur J Biochem (2004) 1.24
Suppression of neuropil aggregates and neurological symptoms by an intracellular antibody implicates the cytoplasmic toxicity of mutant huntingtin. J Cell Biol (2008) 1.22
Human neuroblasts migrate to the olfactory bulb via a lateral ventricular extension. Science (2007) 5.23
Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain. Proc Natl Acad Sci U S A (2003) 2.36
Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA. BMC Genomics (2012) 1.18
Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One (2011) 1.08
Exploring the transcriptome of ciliated cells using in silico dissection of human tissues. PLoS One (2012) 1.06
Elevated brain iron is independent from atrophy in Huntington's Disease. Neuroimage (2012) 0.93
Molecular investigation of TBP allele length: a SCA17 cellular model and population study. Neurobiol Dis (2003) 0.90
In silico discovery and experimental validation of new protein-protein interactions. Proteomics (2011) 0.88
Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain. Front Mol Neurosci (2011) 0.84
Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon. Neurobiol Dis (2013) 0.84
Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification. Nucleic Acid Ther (2013) 0.82
TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease. Brain Res Mol Brain Res (2004) 0.82
Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain. BMC Neurosci (2013) 0.78
Selection and characterization of llama single domain antibodies against N-terminal huntingtin. Neurol Sci (2014) 0.78
Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Rev Neurosci (2014) 0.77
CAG repeat size in the normal HTT allele and age of onset in Huntington's disease. Mov Disord (2011) 0.77