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Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
SUMO Modification of Huntingtin and Huntington's Disease Pathology
2004 Science
Neurotoxic protein expression reveals connections between the circadian clock and mating behavior in Drosophila
2006 StandoutNobel
p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
2005 Standout
α-Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro
2010 StandoutScienceNobel
Parkinson-like syndrome induced by continuous MPTP infusion: Convergent roles of the ubiquitin-proteasome system and α-synuclein
2005 StandoutNobel
Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome
1993
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
1993
Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
1994
FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding
1993 Science
Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length
1998
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
1993 Nature
Transport of Fragile X Mental Retardation Protein via Granules in Neurites of PC12 Cells
2002
Advances in Molecular Analysis of Fragile X Syndrome
1994
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
1997
Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders
2015
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
1995
No correlation between aggregates of Cu/Zn superoxide dismutase and cell death in familial amyotrophic lateral sclerosis
2002
Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain
1995
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
1997
Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo
1997
Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome
1995
Characterization of the pufferfish (Fugu) genome as a compact model vertebrate genome
1993 StandoutNatureNobel
Apoptosis in the nervous system
2000 StandoutNature
Retinoic acid receptors: From molecular mechanisms to cancer therapy
2014
Mouse genetic models for prepulse inhibition: an early review
2002
Time course of early motor and neuropathological anomalies in a knock‐in mouse model of Huntington's disease with 140 CAG repeats
2003
Huntingtin Is Ubiquitinated and Interacts with a Specific Ubiquitin-conjugating Enzyme
1996
Control of type-D GABAergic neuron differentiation by C. elegans UNC-30 homeodomain protein
1994 StandoutNatureNobel
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Are Huntington’s and polyglutamine-based ataxias proteasome storage diseases?
2003
Loss of normal huntingtin function: new developments in Huntington's disease research
2001
Differences in duration of Huntington's disease based on age at onset
1999
Polyglutamine tract expansion of the androgen receptor in a motoneuronal model of spinal and bulbar muscular atrophy
2001
CD22 blockade restores homeostatic microglial phagocytosis in ageing brains
2019 StandoutNatureNobel
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
2000
Huntington's disease
2007 Standout
Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70
1999
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains
2002
Huntingtin Spheroids and Protofibrils as Precursors in Polyglutamine Fibrilization
2002
Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes
2004
Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference
2002
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
2004 Standout
The role of the ubiquitin-proteasomal pathway in Parkinson's disease and other neurodegenerative disorders
2001
Identification of mRNA/Protein (mRNP) Complexes Containing Purα, mStaufen, Fragile X Protein, and Myosin Va and their Association with Rough Endoplasmic Reticulum Equipped with a Kinesin Motor
2002
Caspase-8 Is Required for Cell Death Induced by Expanded Polyglutamine Repeats
1999
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease
1999 Nature
A cell-based screen for drugs to treat Huntington's disease
2004
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
2004 StandoutNature
Dynamic regulation of molecular chaperone gene expression in polyglutamine disease
2005
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
1995
Gilbert’s conjecture: the search for DNA (cytosine-5) demethylases and the emergence of new functions for eukaryotic DNA (cytosine-5) methyltransferases 1 1Edited by J. Karn
2000
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
1997
Nuclear Localization of a Non-caspase Truncation Product of Atrophin-1, with an Expanded Polyglutamine Repeat, Increases Cellular Toxicity
2003
Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex
2001
Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release
2001
A phosphatidylinositol-3-OH kinase family member regulating longevity and diapause in Caenorhabditis elegans
1996 StandoutNatureNobel
Mutant Huntingtin Promotes the Fibrillogenesis of Wild-type Huntingtin
2003
Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon
1994
Hhal methyltransferase flips its target base out of the DNA helix
1994 Nobel
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
2001
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
1998 StandoutNatureNobel
Calcium channels in neurological disease
1997
Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins
1998
Triplet repeat mutations in human disease
1992 Science
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
2016 StandoutNobel
A Precipitating Role for Truncated α-Synuclein and the Proteasome in α-Synuclein Aggregation
2005
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
1998
Reversal of Neuropathology and Motor Dysfunction in a Conditional Model of Huntington's Disease
2000
Unfolding the role of protein misfolding in neurodegenerative diseases
2003
Polyglutamines Placed into Context
2003
Protein Fate in Neurodegenerative Proteinopathies: Polyglutamine Diseases Join the (Mis)Fold
1999
An Alternatively Spliced C. elegans ced-4 RNA Encodes a Novel Cell Death Inhibitor
1996 StandoutNobel
Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein
2003
The complex pathology of trinucleotide repeats
1997
Polyglutamine-Expanded Human Huntingtin Transgenes Induce Degeneration of Drosophila Photoreceptor Neurons
1998
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
2000
The CRISPR System: Small RNA-Guided Defense in Bacteria and Archaea
2010
The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14
1993 StandoutNobel
Huntingtin localization in brains of normal and Huntington's disease patients
1997
Mouse Models of Huntington’s Disease
2018
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
2006 StandoutNature
MEX-3 Is a KH Domain Protein That Regulates Blastomere Identity in Early C. elegans Embryos
1996 StandoutNobel
In vitro effects of polyglutamine tracts on Ca2+-dependent depolarization of rat and human mitochondria: relevance to Huntington’s disease
2003
p53 Mediates Cellular Dysfunction and Behavioral Abnormalities in Huntington’s Disease
2005
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain
1997
Protein aggregation and the ubiquitin proteasome pathway: gaining the UPPer hand on neurodegeneration
2003
Impaired Synaptic Plasticity in Mice Carrying the Huntington's Disease Mutation
1999
SCA17 homozygote showing Huntington's disease‐like phenotype
2004
Oxidative demethylation by Escherichia coli AlkB directly reverts DNA base damage
2002 StandoutNatureNobel
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
1993
Molecular Genetics of Huntington’s Disease
1998
Protein aggregation and neurodegenerative disease
2004 Standout
Polyglutamine-Expanded Androgen Receptors Form Aggregates That Sequester Heat Shock Proteins, Proteasome Components and SRC-1, and Are Suppressed by the HDJ-2 Chaperone
1999
A transgenic mouse model of the ubiquitin/proteasome system
2003
Apoptosis in Huntington's disease
2003
Trans-splicing in C. elegans generates the negative RNAi regulator ERI-6/7
2008 StandoutNatureNobel
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
1996
Glial and neuronal expression of polyglutamine proteins induce behavioral changes and aggregate formation in Drosophila
2004
The Splicing Factor BBP Interacts Specifically with the Pre-mRNA Branchpoint Sequence UACUAAC
1997 StandoutNobel
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9
2017
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
1996
A huntingtin-associated protein enriched in brain with implications for pathology
1995 Nature
α-Synuclein Cooperates with CSPα in Preventing Neurodegeneration
2005 StandoutNobel
Transglutaminase potentiates ligand-dependent proteasome dysfunction induced by polyglutamine-expanded androgen receptor
2003
Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats
2001 Nature
RNA-guided genetic silencing systems in bacteria and archaea
2012 StandoutNatureNobel
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
1999
Transgenic models of Huntington's disease
1997
Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein
2003
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
1995
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Huntingtin Is Present in the Nucleus, Interacts with the Transcriptional Corepressor C-terminal Binding Protein, and Represses Transcription
2002
Drosophila Fragile X-Related Gene Regulates the MAP1B Homolog Futsch to Control Synaptic Structure and Function
2001
Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo
1996
Parkin ubiquitinates the α-synuclein–interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease
2001
Ectopically Expressed CAG Repeats Cause Intranuclear Inclusions and a Progressive Late Onset Neurological Phenotype in the Mouse
1997
Polyglutamine Pathogenesis
2002
Aggregate formation inhibits proteasomal degradation of polyglutamine proteins
2002
‘Tissue’ transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease
2002
Molecular cloning and analysis of the fragile X region in man
1991
Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy
2003
CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain
1995
Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease
2001
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
1998
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila
2001 Nature
Three-Dimensional Structure and Stability of the KH Domain: Molecular Insights into the Fragile X Syndrome
1996
Cross-Intron Bridging Interactions in the Yeast Commitment Complex Are Conserved in Mammals
1997 StandoutNobel
Lessons from animal models of Huntington's disease
2002
Nuclear Targeting of Mutant Huntingtin Increases Toxicity
1999
Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA
1998
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
Trinucleotide repeats and genome variation
1993
Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules
2004
Early changes in Huntington’s disease patient brains involve alterations in cytoskeletal and synaptic elements
2004
Polyglutamine Expansion, Protein Aggregation, Proteasome Activity, and Neural Survival
2002
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1993
Revealing the world of RNA interference
2004 StandoutNatureNobel
Evidence for Proteasome Involvement in Polyglutamine Disease: Localization to Nuclear Inclusions in SCA3/MJD and Suppression of Polyglutamine Aggregation in vitro
1999
Cleavage at the Caspase-6 Site Is Required for Neuronal Dysfunction and Degeneration Due to Mutant Huntingtin
2006
twine, a cdc25 homolog that functions in the male and female germline of drosophila
1992 StandoutNobel
Altered anxiety‐related and social behaviors in the Fmr1 knockout mouse model of fragile X syndrome
2005
Oligomeric and Fibrillar Species of Amyloid-β Peptides Differentially Affect Neuronal Viability
2002 Standout
Formation of Polyglutamine Inclusions in Non-CNS Tissue
1999
Aggresomes Formed by α-Synuclein and Synphilin-1 Are Cytoprotective
2004
Ataxin-1 Nuclear Localization and Aggregation
1998
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
1996
The Role of Protein Composition in Specifying Nuclear Inclusion Formation in Polyglutamine Disease
2001
Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine
2002
Modulating huntingtin half‐life alters polyglutamine‐dependent aggregate formation and cell toxicity
2004
Cellular Defenses against Unfolded Proteins
2001
HIP-I: A huntingtin interacting protein isolated by the yeast two-hybrid system
1997
Progressive loss of BDNF in a mouse model of Huntington's disease and rescue by BDNF delivery
2005
Inhibition of Calpain Cleavage of Huntingtin Reduces Toxicity
2004
Huntington disease: new insights on the role of huntingtin cleavage
2000
Molecular Neurobiology and Genetics: Investigation of Neural Function and Dysfunction
1998
Absence of expression of the FMR-1 gene in fragile X syndrome
1991
Huntington’s disease: how does huntingtin, an anti-apoptotic protein, become toxic?
2004
Selective Neuronal Degeneration in Huntington's Disease
2006
Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons
1997
Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations
1998
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions
1998
The Neuropathology of Huntington’s Disease
2014
Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation
1996
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
1997
Parkinson's Disease
2003 Standout
Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders
2003 Nature
Huntingtin aggregation and toxicity in Huntington's disease
2003
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
1999
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees
1997
The Length of Polyglutamine Tract, Its Level of Expression, the Rate of Degradation, and the Transglutaminase Activity Influence the Formation of Intracellular Aggregates
1999
Huntingtin aggregates may not predict neuronal death in Huntington's disease
1999
Mutant Huntingtin Expression in Clonal Striatal Cells: Dissociation of Inclusion Formation and Neuronal Survival by Caspase Inhibition
1999
Purkinje Cell Expression of a Mutant Allele ofSCA1in Transgenic Mice Leads to Disparate Effects on Motor Behaviors, Followed by a Progressive Cerebellar Dysfunction and Histological Alterations
1997
Allele-specific silencing of dominant disease genes
2003
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Caspase Cleavage of Mutant Huntingtin Precedes Neurodegeneration in Huntington's Disease
2002
Spinocerebellar ataxia type 6
1997
Structure of the STRA6 receptor for retinol uptake
2016 StandoutScienceNobel
Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease
2000
Therapeutic Effects of Cystamine in a Murine Model of Huntington's Disease
2002
Huntingtin Expression Stimulates Endosomal–Lysosomal Activity, Endosome Tubulation, and Autophagy
2000
Formation of morphologically similar globular aggregates from diverse aggregation-prone proteins in mammalian cells
2005
Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment
2002
A cell-based assay for aggregation inhibitors as therapeutics of polyglutamine-repeat disease and validation in Drosophila
2003
Nonapoptotic neurodegeneration in a transgenic mouse model of Huntington's disease
2000
Abnormal Synaptic Plasticity and Impaired Spatial Cognition in Mice Transgenic for Exon 1 of the Human Huntington's Disease Mutation
2000
Glutamine Repeats and Neurodegeneration
2000
Inactivation of a Serotonin-Gated Ion Channel by a Polypeptide Toxin from Marine Snails
1998 StandoutScienceNobel
Dopaminergic Loss and Inclusion Body Formation in α-Synuclein Mice: Implications for Neurodegenerative Disorders
2000 Science
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh
1995 Science
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
The role of the ubiquitin-proteasomal pathway in Parkinson's disease and other neurodegenerative disorders
2001
Accumulation of Mutant Huntingtin Fragments in Aggresome-like Inclusion Bodies as a Result of Insufficient Protein Degradation
2001
Huntington aggregates may not predict neuronal death in Huntington's disease.
1999
Neural Science
2000 StandoutNobel
Genetic Classification of Primary Neurodegenerative Disease
1998 Science
Fmr1 knockout mice: A model to study fragile X mental retardation
1994
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
2001
Toxic Proteins in Neurodegenerative Disease
2002 Science
Expression of Normal and Mutant Huntingtin in the Developing Brain
1996
Crystal Structure of DNA Photolyase from Escherichia coli
1995 StandoutScienceNobel
Neuronal Activity-Dependent Cell Survival Mediated by Transcription Factor MEF2
1999 Science
Lentiviral-Mediated Delivery of Mutant Huntingtin in the Striatum of Rats Induces a Selective Neuropathology Modulated by Polyglutamine Repeat Size, Huntingtin Expression Levels, and Protein Length
2002
Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: Implications for Huntington’s disease pathology
1999
Proteasomal-Dependent Aggregate Reversal and Absence of Cell Death in a Conditional Mouse Model of Huntington's Disease
2001
Nuclear and Neuropil Aggregates in Huntington’s Disease: Relationship to Neuropathology
1999
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.
1997
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
1994
Expansion explosion: new clues to the pathogenesis of repeat expansion neurodegenerative diseases
2001
Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity
2003
Evolution of amyloid: What normal protein folding may tell us about fibrillogenesis and disease
1999
Polyglutamine fibrillogenesis: The pathway unfolds
2002
Transcriptional dysregulation in Huntington’s disease
2000
α-Synucleinopathy and selective dopaminergic neuron loss in a rat lentiviral-based model of Parkinson's disease
2002
Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n
1991 Science
Biallelic inactivation of hMLH 1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers
1998 StandoutNobel
Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain
1997 StandoutScience
Polyglutamines, nuclear inclusions and neurodegeneration
1997
Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration
2001
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Glutamine repeats and inherited neurodegenerative diseases: molecular aspects
1996
Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with β-tubulin: relevance to Huntington's disease
2002
CRISPR-Cas guides the future of genetic engineering
2018 StandoutScienceNobel
Triplet Repeat Mutations in Human Disease
1992 Science
Tissue-Specific Proteolysis of Huntingtin (htt) in Human Brain: Evidence of Enhanced Levels of N- and C-Terminal htt Fragments in Huntington's Disease Striatum
2001
Identification of many microRNAs that copurify with polyribosomes in mammalian neurons
2003 StandoutNobel
Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: Relevance to diseases of the nervous system
1996
THE UBIQUITIN SYSTEM
1998 StandoutNobel
Sp1 and TAFII130 Transcriptional Activity Disrupted in Early Huntington's Disease
2002 Science
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
A cellular model that recapitulates major pathogenic steps of Huntington's disease
1998
Quantitative neuropathological changes in presymptomatic Huntington's disease
2001
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of Didier Devys being referenced
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
1995
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
1995
A TFTC/STAGA Module Mediates Histone H2A and H2B Deubiquitination, Coactivates Nuclear Receptors, and Counteracts Heterochromatin Silencing
2008
Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms
1996
Proteases Acting on Mutant Huntingtin Generate Cleaved Products that Differentially Build Up Cytoplasmic and Nuclear Inclusions
2002
Differential distribution of the normal and mutated forms of huntingtin in the human brain
1997
SH3 Domain-dependent Association of Huntingtin with Epidermal Growth Factor Receptor Signaling Complexes
1997
Polyglutamine Expansion Induces a Protein-damaging Stress Connecting Heat Shock Protein 70 to the JNK Pathway
2003
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
1995 Nature
Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear Inclusions
1998
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
1992
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
1996
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
1993
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
1991 Science
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
1992
Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island
1991 Science