Published in Hum Mol Genet on June 26, 2012
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature (2004) 11.82
Comparison of Affymetrix GeneChip expression measures. Bioinformatics (2006) 7.49
The BRCT domain is a phospho-protein binding domain. Science (2003) 7.42
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell (1998) 7.13
BRCT repeats as phosphopeptide-binding modules involved in protein targeting. Science (2003) 6.88
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell (1998) 6.24
Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell (2006) 5.58
PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. J Biol Chem (2007) 4.79
Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science (2002) 4.72
Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science (2001) 4.13
The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci U S A (2000) 4.01
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature (2008) 3.68
Empirical array quality weights in the analysis of microarray data. BMC Bioinformatics (2006) 3.54
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology (1968) 3.48
H2AX is required for chromatin remodeling and inactivation of sex chromosomes in male mouse meiosis. Dev Cell (2003) 3.42
Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet (2010) 2.36
X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol (2002) 2.21
The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex. Dev Cell (2007) 2.20
CREB-binding protein sequestration by expanded polyglutamine. Hum Mol Genet (2000) 2.18
Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron (2002) 2.15
X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain (1989) 2.10
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell (2005) 2.09
PTIP promotes chromatin changes critical for immunoglobulin class switch recombination. Science (2010) 2.05
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. Proc Natl Acad Sci U S A (2005) 1.87
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron (2010) 1.75
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
Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest (2006) 1.67
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet (2000) 1.67
BRCT domain-containing protein PTIP is essential for progression through mitosis. Mol Cell Biol (2003) 1.63
In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets. Cell (2005) 1.62
Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J (2000) 1.56
Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice. Development (2003) 1.49
Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum Mol Genet (2002) 1.41
Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage. J Biol Chem (2009) 1.39
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
Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going? J Mol Cell Biol (2010) 1.25
Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy. J Biol Chem (2002) 1.25
The transcription factor Pax5 regulates its target genes by recruiting chromatin-modifying proteins in committed B cells. EMBO J (2011) 1.22
Pathogenesis, animal models and therapeutics in spinal and bulbar muscular atrophy (SBMA). Exp Neurol (2006) 1.18
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum Mol Genet (2004) 1.16
Role of PTIP in class switch recombination and long-range chromatin interactions at the immunoglobulin heavy chain locus. Mol Cell Biol (2011) 1.13
Rad50 is dispensable for the maintenance and viability of postmitotic tissues. Mol Cell Biol (2008) 1.13
Abnormalities of germ cell maturation and sertoli cell cytoskeleton in androgen receptor 113 CAG knock-in mice reveal toxic effects of the mutant protein. Am J Pathol (2006) 1.08
Transcriptional alterations and chromatin remodeling in polyglutamine diseases. Trends Genet (2006) 1.04
PTIP regulates 53BP1 and SMC1 at the DNA damage sites. J Biol Chem (2009) 1.04
Drosophila ptip is essential for anterior/posterior patterning in development and interacts with the PcG and trxG pathways. Development (2009) 1.01
Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? Curr Opin Pharmacol (2008) 1.01
DNA breakage and induction of DNA damage response proteins precede the appearance of visible mutant huntingtin aggregates. J Neurosci Res (2009) 0.98
Impaired motoneuronal retrograde transport in two models of SBMA implicates two sites of androgen action. Hum Mol Genet (2011) 0.98
Mutant huntingtin impairs Ku70-mediated DNA repair. J Cell Biol (2010) 0.97
Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae. PLoS Genet (2011) 0.84
Polyglutamine repeat length influences human androgen receptor/c-Jun mediated transcription. Neurosci Lett (1999) 0.78
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Pten dependence distinguishes haematopoietic stem cells from leukaemia-initiating cells. Nature (2006) 11.86
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Histone H2AX: a dosage-dependent suppressor of oncogenic translocations and tumors. Cell (2003) 5.26
Increased ionizing radiation sensitivity and genomic instability in the absence of histone H2AX. Proc Natl Acad Sci U S A (2002) 5.07
PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. J Biol Chem (2007) 4.79
Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations. Cell (2002) 4.29
Mre11 nuclease activity has essential roles in DNA repair and genomic stability distinct from ATM activation. Cell (2008) 3.42
Six2 is required for suppression of nephrogenesis and progenitor renewal in the developing kidney. EMBO J (2006) 3.26
Mouse model of colonic adenoma-carcinoma progression based on somatic Apc inactivation. Cancer Res (2007) 2.97
The role of DNA breaks in genomic instability and tumorigenesis. Immunol Rev (2003) 2.72
Kielin/chordin-like protein, a novel enhancer of BMP signaling, attenuates renal fibrotic disease. Nat Med (2005) 2.52
Apixaban metabolism and pharmacokinetics after oral administration to humans. Drug Metab Dispos (2008) 2.45
Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. J Neurosci (2004) 2.22
The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex. Dev Cell (2007) 2.20
Multiple roles for MRE11 at uncapped telomeres. Nature (2009) 2.18
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. Mol Cell (2003) 2.08
Multiple functions of MRN in end-joining pathways during isotype class switching. Nat Struct Mol Biol (2009) 2.05
PTIP promotes chromatin changes critical for immunoglobulin class switch recombination. Science (2010) 2.05
Defective DNA repair and increased genomic instability in Artemis-deficient murine cells. J Exp Med (2003) 1.98
ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. Nat Med (2007) 1.87
Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release. Nat Commun (2012) 1.85
Rad54 and DNA Ligase IV cooperate to maintain mammalian chromatid stability. Genes Dev (2004) 1.84
Nephrogenic factors promote differentiation of mouse embryonic stem cells into renal epithelia. J Am Soc Nephrol (2005) 1.78
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum Mol Genet (2007) 1.73
Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. Proc Natl Acad Sci U S A (2007) 1.71
Proapoptotic BID is required for myeloid homeostasis and tumor suppression. Genes Dev (2003) 1.70
Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell line. Mamm Genome (2007) 1.68
Genetic p53 deficiency partially rescues the adrenocortical dysplasia phenotype at the expense of increased tumorigenesis. Cancer Cell (2009) 1.67
Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest (2006) 1.67
Mammalian Rif1 contributes to replication stress survival and homology-directed repair. J Cell Biol (2009) 1.66
BRCT domain-containing protein PTIP is essential for progression through mitosis. Mol Cell Biol (2003) 1.63
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
C9ORF72 expansion in a family with bipolar disorder. Bipolar Disord (2013) 1.54
Artemis and p53 cooperate to suppress oncogenic N-myc amplification in progenitor B cells. Proc Natl Acad Sci U S A (2004) 1.53
Kielin/chordin-like protein attenuates both acute and chronic renal injury. J Am Soc Nephrol (2013) 1.51
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet (2012) 1.46
Ureteric bud outgrowth in response to RET activation is mediated by phosphatidylinositol 3-kinase. Dev Biol (2002) 1.45
CHIP deletion reveals functional redundancy of E3 ligases in promoting degradation of both signaling proteins and expanded glutamine proteins. Hum Mol Genet (2008) 1.43
The Polycomb group protein EZH2 impairs DNA repair in breast epithelial cells. Neoplasia (2005) 1.42
A Hox-Eya-Pax complex regulates early kidney developmental gene expression. Mol Cell Biol (2007) 1.42
Soluble androgen receptor oligomers underlie pathology in a mouse model of spinobulbar muscular atrophy. J Biol Chem (2006) 1.41
CAS P8 -652 6N del polymorphism and breast cancer risk: a systematic review and meta-analysis. Neth J Med (2014) 1.40
Safety, pharmacokinetics and pharmacodynamics of multiple oral doses of apixaban, a factor Xa inhibitor, in healthy subjects. Br J Clin Pharmacol (2013) 1.39
Activation of Hsp70 reduces neurotoxicity by promoting polyglutamine protein degradation. Nat Chem Biol (2012) 1.37
Rad50 depletion impacts upon ATR-dependent DNA damage responses. Hum Mol Genet (2005) 1.36
Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Hum Mol Genet (2008) 1.36
Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. Hum Mol Genet (2002) 1.33
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
Inhibition of hsp70 by methylene blue affects signaling protein function and ubiquitination and modulates polyglutamine protein degradation. J Biol Chem (2010) 1.29
Genome-wide DNA methylation differences between late-onset Alzheimer's disease and cognitively normal controls in human frontal cortex. J Alzheimers Dis (2012) 1.27
DNA double-strand break repair: a relentless hunt uncovers new prey. Cell (2006) 1.27
Androgen receptor acetylation site mutations cause trafficking defects, misfolding, and aggregation similar to expanded glutamine tracts. J Biol Chem (2003) 1.27
Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy. J Biol Chem (2002) 1.25
Pharmacologic and genetic inhibition of hsp90-dependent trafficking reduces aggregation and promotes degradation of the expanded glutamine androgen receptor without stress protein induction. Hum Mol Genet (2006) 1.22
Loss of H3K4 methylation destabilizes gene expression patterns and physiological functions in adult murine cardiomyocytes. J Clin Invest (2011) 1.22
Phosphorylation of Pax2 by the c-Jun N-terminal kinase and enhanced Pax2-dependent transcription activation. J Biol Chem (2001) 1.22
Distribution of phytoplankton in the Three-Gorge Reservoir during rainy and dry seasons. Sci Total Environ (2006) 1.21
Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation. Blood (2009) 1.19
Chfr and RNF8 synergistically regulate ATM activation. Nat Struct Mol Biol (2011) 1.19
Small ubiquitin-like modifier (SUMO) modification of the androgen receptor attenuates polyglutamine-mediated aggregation. J Biol Chem (2009) 1.19
The HMG-I/Y-related protein p8 binds to p300 and Pax2 trans-activation domain-interacting protein to regulate the trans-activation activity of the Pax2A and Pax2B transcription factors on the glucagon gene promoter. J Biol Chem (2002) 1.19
Critical role for DP5/Harakiri, a Bcl-2 homology domain 3-only Bcl-2 family member, in axotomy-induced neuronal cell death. J Neurosci (2004) 1.18
Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum Mol Genet (2009) 1.18
Groucho suppresses Pax2 transactivation by inhibition of JNK-mediated phosphorylation. EMBO J (2003) 1.18
Joint loss of PAX2 and PTEN expression in endometrial precancers and cancer. Cancer Res (2010) 1.16
Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease. Hum Mol Genet (2012) 1.14
Neuropathological heterogeneity in frontotemporal lobar degeneration with TDP-43 proteinopathy: a quantitative study of 94 cases using principal components analysis. J Neural Transm (Vienna) (2009) 1.14
Role of PTIP in class switch recombination and long-range chromatin interactions at the immunoglobulin heavy chain locus. Mol Cell Biol (2011) 1.13
Decreased expression of microRNA-206 in breast cancer and its association with disease characteristics and patient survival. J Int Med Res (2013) 1.13
PTEN modulates GDNF/RET mediated chemotaxis and branching morphogenesis in the developing kidney. Dev Biol (2007) 1.12
Mre11 regulates CtIP-dependent double-strand break repair by interaction with CDK2. Nat Struct Mol Biol (2012) 1.10
The pathogenesis of Niemann-Pick type C disease: a role for autophagy? Expert Rev Mol Med (2008) 1.10
Targeting Hsp90/Hsp70-based protein quality control for treatment of adult onset neurodegenerative diseases. Annu Rev Pharmacol Toxicol (2014) 1.09
Abnormalities of germ cell maturation and sertoli cell cytoskeleton in androgen receptor 113 CAG knock-in mice reveal toxic effects of the mutant protein. Am J Pathol (2006) 1.08
Expression of the PAX2 oncogene in human breast cancer and its role in progesterone-dependent mammary growth. Oncogene (2002) 1.08
The development of the bladder trigone, the center of the anti-reflux mechanism. Development (2007) 1.06
BMP7 signaling in renal development and disease. Trends Mol Med (2005) 1.06
Epigenetic mechanisms of Groucho/Grg/TLE mediated transcriptional repression. Mol Cell (2011) 1.05
SIRT1 modulates aggregation and toxicity through deacetylation of the androgen receptor in cell models of SBMA. J Neurosci (2011) 1.05
Lipid trafficking defects increase Beclin-1 and activate autophagy in Niemann-Pick type C disease. Autophagy (2007) 1.05
PTIP regulates 53BP1 and SMC1 at the DNA damage sites. J Biol Chem (2009) 1.04
An interdomain interaction of the androgen receptor is required for its aggregation and toxicity in spinal and bulbar muscular atrophy. J Biol Chem (2010) 1.03
Macroautophagy is regulated by the UPR-mediator CHOP and accentuates the phenotype of SBMA mice. PLoS Genet (2011) 1.02
Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy. PLoS One (2010) 1.02
Activation of Wnt11 by transforming growth factor-β drives mesenchymal gene expression through non-canonical Wnt protein signaling in renal epithelial cells. J Biol Chem (2012) 1.02
Tau normal function influences Niemann-Pick type C disease pathogenesis in mice and modulates autophagy in NPC1-deficient cells. Autophagy (2009) 1.02
Recovery of function in a myogenic mouse model of spinal bulbar muscular atrophy. Neurobiol Dis (2008) 1.01