Standout Papers
Citation Impact
Citing Papers
Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines
2007 StandoutNobel
Neurotoxic protein expression reveals connections between the circadian clock and mating behavior in Drosophila
2006 StandoutNobel
Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells
2013 StandoutScience
Genome-wide CRISPR screens reveal a specific ligand for the glycan-binding immune checkpoint receptor Siglec-7
2021 StandoutNobel
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
2006 StandoutScience
α-Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro
2010 StandoutScienceNobel
Increased susceptibility of cytoplasmic over nuclear polyglutamine aggregates to autophagic degradation
2005
Parkinson-like syndrome induced by continuous MPTP infusion: Convergent roles of the ubiquitin-proteasome system and α-synuclein
2005 StandoutNobel
Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease
2003
Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.
1995
Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia
2017
The fragile X syndrome.
1998
Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length
1998
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
2000
(CAG)n-hairpin DNA binds to Msh2–Msh3 and changes properties of mismatch recognition
2005
Intramolecular Control of Protein Stability, Subnuclear Compartmentalization, and Coactivator Function of Peroxisome Proliferator-activated Receptor γ Coactivator 1α
2007
Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo
1997
Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein
2003
Apoptosis in the nervous system
2000 StandoutNature
Gangliosides: Treatment Avenues in Neurodegenerative Disease
2019
Length-dependent structure formation in Friedreich ataxia (GAA)n{middle dot}(TTC)n repeats at neutral pH
2004
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
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Molecular Alterations in a Mouse Cardiac Model of Friedreich Ataxia
2017
Are Huntington’s and polyglutamine-based ataxias proteasome storage diseases?
2003
Ubiquitin, cellular inclusions and their role in neurodegeneration
1998
Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair
2008
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
1997 Nature
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
1998
Alternative isoform regulation in human tissue transcriptomes
2008 StandoutNature
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
Excitotoxic Neuronal Death and the Pathogenesis of Huntington's Disease
2008
Polyglutamine tract expansion of the androgen receptor in a motoneuronal model of spinal and bulbar muscular atrophy
2001
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
1998
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
2000
Huntington's disease
2007 Standout
A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17
2006
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
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
2004 Standout
Gene expression in Huntington's disease skeletal muscle: a potential biomarker
2005
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
The Discovery of Human of GLUD2 Glutamate Dehydrogenase and Its Implications for Cell Function in Health and Disease
2013
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
1995
A role for mitochondria in NLRP3 inflammasome activation
2010 StandoutNature
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
Mutant Huntingtin Promotes the Fibrillogenesis of Wild-type Huntingtin
2003
Autophagy fights disease through cellular self-digestion
2008 StandoutNature
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
2001
Calcium channels in neurological disease
1997
Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins
1998
Mismatch repair gene Msh2 modifies the timing of early disease in HdhQ111 striatum
2003
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
Protein Fate in Neurodegenerative Proteinopathies: Polyglutamine Diseases Join the (Mis)Fold
1999
A mutation in the insulin 2 gene induces diabetes with severe pancreatic β-cell dysfunction in the Mody mouse
1999
ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats
2002
The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia
2009
Nature and cause of mitochondrial dysfunction in Huntington’s disease: focusing on huntingtin and the striatum
2010
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
Glutamine repeats and neurodegenerative diseases
1999
The biochemistry of apoptosis
2000 StandoutNature
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
Frataxin knockdown causes loss of cytoplasmic iron–sulfur cluster functions, redox alterations and induction of heme transcripts
2006
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain
1997
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: Redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions
2002
Impaired Synaptic Plasticity in Mice Carrying the Huntington's Disease Mutation
1999
SCA17 homozygote showing Huntington's disease‐like phenotype
2004
Frataxin knockin mouse
2002
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
Aggregated and Monomeric α-Synuclein Bind to the S6′ Proteasomal Protein and Inhibit Proteasomal Function
2003
Machado-Joseph Disease: from first descriptions to new perspectives
2011
Regional and progressive changes in brain expression of complexin II in a mouse transgenic for the Huntington’s Disease mutation
2004
Apoptosis in Huntington's disease
2003
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
1996
Protein folding and misfolding
2003 StandoutNature
Glial and neuronal expression of polyglutamine proteins induce behavioral changes and aggregate formation in Drosophila
2004
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
1995
Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington’s disease
2014 Nature
CAG Repeat Expansion in Autosomal Dominant Familial Spastic Paraparesis: Novel Expansion in a Subset of Patients
1998
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
1996
A huntingtin-associated protein enriched in brain with implications for pathology
1995 Nature
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
1999
Atrophin-1, the DRPLA Gene Product, Interacts with Two Families of WW Domain-Containing Proteins
1998
A Rapid Cellular FRET Assay of Polyglutamine Aggregation Identifies a Novel Inhibitor
2003
Structural Neurology: Are Seeds at the Root of Neuronal Degeneration?
1997
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
Molecular Basis of Genetic Instability of Triplet Repeats
1996
Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo
1996
Ectopically Expressed CAG Repeats Cause Intranuclear Inclusions and a Progressive Late Onset Neurological Phenotype in the Mouse
1997
Polyglutamine Pathogenesis
2002
‘Tissue’ transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease
2002
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
Repeat instability as the basis for human diseases and as a potential target for therapy
2010
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
Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila
1998
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila
2001 Nature
Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear Inclusions
1998
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia
2013
Lessons from animal models of Huntington's disease
2002
Nuclear Targeting of Mutant Huntingtin Increases Toxicity
1999
Mitochondrial defect in Huntington's disease caudate nucleus
1996
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
Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21-p24
1997
Early changes in Huntington’s disease patient brains involve alterations in cytoskeletal and synaptic elements
2004
SH3GL3 Associates with the Huntingtin Exon 1 Protein and Promotes the Formation of Polygln-Containing Protein Aggregates
1998
Polyglutamine Expansion, Protein Aggregation, Proteasome Activity, and Neural Survival
2002
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
Reduced Penetrance of the Huntington's Disease Mutation
1997
Formation of Polyglutamine Inclusions in Non-CNS Tissue
1999
Ataxin-1 Nuclear Localization and Aggregation
1998
Trinucleotide expansion in haploid germ cells by gap repair
2001
Polyglutamine aggregation behavior in vitro supports a recruitment mechanism of cytotoxicity
2001
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
1996
Mechanisms of trinucleotide repeat instability during human development
2010
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
Friedreich's Ataxia, No Changes in Mitochondrial Labile Iron in Human Lymphoblasts and Fibroblasts
2004
Spinocerebellar Ataxia Type 2
2018
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
Selective Neuronal Degeneration in Huntington's Disease
2006
The ubiquitin-mediated proteolytic pathway: Mode of action and clinical implications
2000 StandoutNobel
Fly models of Huntington's disease
2003
A molecular pathway of neurodegeneration linking α-synuclein to ApoE and Aβ peptides
2008 StandoutNobel
Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons
1997
Cellular Toxicity of Polyglutamine Expansion Proteins
2004
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
New order from neurological disorders
1999 Nature
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
Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders
2003 Nature
Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease
2004
Intranuclear Neuronal Inclusions: A Common Pathogenic Mechanism for Glutamine-Repeat Neurodegenerative Diseases?
1997
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
1999
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
The natural history of degenerative ataxia: a retrospective study in 466 patients
1998
Mitochondrial Mayhem: The Mitochondrion as a Modulator of Iron Metabolism and Its Role in Disease
2011
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model
2013
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
DNA instability in postmitotic neurons
2008
STAGA Recruits Mediator to the MYC Oncoprotein To Stimulate Transcription and Cell Proliferation
2007
Evidence for a recruitment and sequestration mechanism in Huntington'sdisease
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
Mechanisms of transcriptional dysregulation in Huntington's disease
2003
Caspase Cleavage of Mutant Huntingtin Precedes Neurodegeneration in Huntington's Disease
2002
Spinocerebellar ataxia type 6
1997
Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease
2000
Huntingtin Expression Stimulates Endosomal–Lysosomal Activity, Endosome Tubulation, and Autophagy
2000
Mutational analysis of the structural organization of polyglutamine aggregates
2002
A cell-based assay for aggregation inhibitors as therapeutics of polyglutamine-repeat disease and validation in Drosophila
2003
Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells
1999
Nonapoptotic neurodegeneration in a transgenic mouse model of Huntington's disease
2000
Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia
2001
Surprising gene expression patterns within and between PDF-containing circadian neurons in Drosophila
2010 StandoutNobel
Diabetic nephropathy is markedly enhanced in mice lacking the bradykinin B2 receptor
2004 StandoutNobel
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
Homologues of the Caenorhabditis elegans Fox-1 Protein Are Neuronal Splicing Regulators in Mammals
2005
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
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
Mice carrying a human GLUD2 gene recapitulate aspects of human transcriptome and metabolome development
2016 StandoutNobel
Pharmacological treatments for Friedreich ataxia
2016
Function of IRE1 alpha in the placenta is essential for placental development and embryonic viability
2009 StandoutNobel
Neural Science
2000 StandoutNobel
Genetic Classification of Primary Neurodegenerative Disease
1998 Science
Small molecule probes to quantify the functional fraction of a specific protein in a cell with minimal folding equilibrium shifts
2014 StandoutNobel
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
2003
Expression of Normal and Mutant Huntingtin in the Developing Brain
1996
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
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
Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity
2001 Science
Complementary roles of gasotransmitters CO and H2S in sleep apnea
2017 StandoutNobel
Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity
2003
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length
1999
Generation of Neuronal Intranuclear Inclusions by Polyglutamine-GFP: Analysis of Inclusion Clearance and Toxicity as a Function of Polyglutamine Length
1999
Mammalian Caspases: Structure, Activation, Substrates, and Functions During Apoptosis
1999 Standout
Neuroscience: Breaking Down Scientific Barriers to the Study of Brain and Mind
2000 StandoutScienceNobel
Polyglutamine fibrillogenesis: The pathway unfolds
2002
Transcriptional dysregulation in Huntington’s disease
2000
Development of functional human embryonic stem cell-derived neurons in mouse brain
2005
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Identification of the endophilins (SH3p4/p8/p13) as novel binding partners for the β1-adrenergic receptor
1999 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
Hsp70 and Hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils
2000
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia
2016
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
Selective Discrimination Learning Impairments in Mice Expressing the Human Huntington's Disease Mutation
1999
Disruption of Axonal Transport by Loss of Huntingtin or Expression of Pathogenic PolyQ Proteins in Drosophila
2003
Autophagy in neurons: a review.
2002
Mitophagy confers resistance to siderophore-mediated killing by Pseudomonas aeruginosa
2015 StandoutNobel
Therapeutic Effects of Coenzyme Q10and Remacemide in Transgenic Mouse Models of Huntington's Disease
2002
Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: Relevance to diseases of the nervous system
1996
THE UBIQUITIN SYSTEM
1998 StandoutNobel
Altered ubiquitination and stability of aquaporin-1 in hypertonic stress
2001 StandoutNobel
Mitochondrial activation chemicals synergize with surface receptor PD-1 blockade for T cell-dependent antitumor activity
2017 StandoutNobel
Chaperoning brain degeneration
2002
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.
1995
Sp1 and TAFII130 Transcriptional Activity Disrupted in Early Huntington's Disease
2002 Science
A cellular model that recapitulates major pathogenic steps of Huntington's disease
1998
Altered transcription in yeast expressing expanded polyglutamine
2001
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of Yvon Trottier being referenced
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
1997
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
1995
Stoichiometry of Base Excision Repair Proteins Correlates with Increased Somatic CAG Instability in Striatum over Cerebellum in Huntington's Disease Transgenic Mice
2009
Proteases Acting on Mutant Huntingtin Generate Cleaved Products that Differentially Build Up Cytoplasmic and Nuclear Inclusions
2002
The Gene for the TATA Binding Protein (TBP) That Contains a Highly Polymorphic Protein Coding CAG Repeat Maps to 6q27
1994
Differential distribution of the normal and mutated forms of huntingtin in the human brain
1997
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
1997
An Isoform of Ataxin‐3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients
1998
Proteolysis of Mutant Huntingtin Produces an Exon 1 Fragment That Accumulates as an Aggregated Protein in Neuronal Nuclei in Huntington Disease
2010
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region
1994
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Polyglutamine Expansion Induces a Protein-damaging Stress Connecting Heat Shock Protein 70 to the JNK Pathway
2003
Solution structure of polyglutamine tracts in GST‐polyglutamine fusion proteins
2002
Heterogeneous Intracellular Localization and Expression of Ataxin-3
1998
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
1995 Nature
Glutamine-Expanded Ataxin-7 Alters TFTC/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction
2006
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
1996
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
2003
Neuronal distribution of intranuclear inclusions in Huntingtonʼs disease with adult onset
1998
Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases
1998
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
1994
Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado‐Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon
1997
PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins
2006
An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
1996
Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease
1999