Standout Papers
Citation Impact
Citing Papers
Neurotoxic protein expression reveals connections between the circadian clock and mating behavior in Drosophila
2006 StandoutNobel
α-Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro
2010 StandoutScienceNobel
Chaperone Suppression of α-Synuclein Toxicity in a Drosophila Model for Parkinson's Disease
2002 StandoutScience
Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.
1995
A census of protein repeats
1999
Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length
1998
Hallmarks of Cancer: The Next Generation
2011 Standout
Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
2003
Ionotropic Glutamate Receptors & CNS Disorders
2008
HSV-1 ICP34.5 Confers Neurovirulence by Targeting the Beclin 1 Autophagy Protein
2007
Expression and Regulation of G Protein-Coupled Receptor Kinase 5 and β-Arrestin-1 in Rat Thyroid FRTL5 Cells
1996
Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain
1995
Identification and chromosomal localization of a processed pseudogene of human GRK6
1997
A large-scale RNAi screen in human cells identifies new components of the p53 pathway
2004
G Protein-coupled Receptor Kinase GRK4
1997
Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo
1997
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
1995
Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease
1999
Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome
1995
Time course of early motor and neuropathological anomalies in a knock‐in mouse model of Huntington's disease with 140 CAG repeats
2003
Regulation of the G Protein-coupled Receptor Kinase GRK5 by Protein Kinase C
1997
Huntingtin Is Ubiquitinated and Interacts with a Specific Ubiquitin-conjugating Enzyme
1996
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
1993
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
1995
A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease
1999
Pyramidal Cell Loss in Motor Cortices in Huntington's Disease
2002
A Dominant Negative Mutant of the G Protein-Coupled Receptor Kinase 2 Selectively Attenuates Adenosine A2 Receptor Desensitization
1997
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
1993
Dynein mutations impair autophagic clearance of aggregate-prone proteins
2005
Widespread expression of Huntington's disease gene (IT15) protein product
1995
Tandem repeats finder: a program to analyze DNA sequences
1999 Standout
Loss of normal huntingtin function: new developments in Huntington's disease research
2001
Channel opening and gating mechanism in AMPA-subtype glutamate receptors
2017 StandoutNatureNobel
Differences in duration of Huntington's disease based on age at onset
1999
The Structure of the Protein Phosphatase 2A PR65/A Subunit Reveals the Conformation of Its 15 Tandemly Repeated HEAT Motifs
1999
Dynamic control of neuroexocytosis by phosphoinositides in health and disease
2010
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families
2000
Polyglutamine tract expansion of the androgen receptor in a motoneuronal model of spinal and bulbar muscular atrophy
2001
Increased Basal Ganglia Iron Levels in Huntington Disease
1999
The role of autophagy in neurodegenerative disease
2013 Standout
Huntington's disease
2007 Standout
The GRK4 Subfamily of G Protein-coupled Receptor Kinases
1999 StandoutNobel
Effect of Different G Protein-coupled Receptor Kinases on Phosphorylation and Desensitization of the α1B-Adrenergic Receptor
1996
Heterogeneity in β-Adrenergic Receptor Kinase Expression in the Lung Accounts for Cell-specific Desensitization of the β2-Adrenergic Receptor
1997
Dying for a cause: invertebrate genetics takes on human neurodegeneration
2003
Molecular medicine for the brain: silencing of disease genes with RNA interference
2004
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
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
2004 Standout
Cognitive Dysfunction Precedes Neuropathology and Motor Abnormalities in the YAC128 Mouse Model of Huntington's Disease
2005
New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications
2004
Induction of Pluripotent Stem Cells from Mouse Embryonic and Adult Fibroblast Cultures by Defined Factors
2006 StandoutNobel
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
1994
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
Involvement of G Protein-coupled Receptor Kinase 5 in Homologous Desensitization of the Thyrotropin Receptor
1996
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
1995
Genetics of Parkinson's disease
2005
Progression of structural neuropathology in preclinical Huntington's disease: a tensor based morphometry study
2005
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
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
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
2001
Huntington’s disease
2006
Lipid-mediated Regulation of G Protein-coupled Receptor Kinases 2 and 3
1995
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
1995
Autophagy and neurodegeneration: when the cleaning crew goes on strike
2007
Role of autophagy in suppression of inflammation and cancer
2010
Small molecules enhance autophagy and reduce toxicity in Huntington's disease models
2007
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
Regulation of G Protein-Coupled Receptor Kinases and Arrestins During Receptor Desensitization
2003 StandoutNobel
cDNAs with long CAG trinucleotide repeats from human brain
1997
Role of autophagy in cancer
2007 Standout
Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease
2010
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
1994
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
Mouse Models of Huntington’s Disease
2018
Huntington’s disease genetics
2004
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
HDAC6 and Microtubules Are Required for Autophagic Degradation of Aggregated Huntingtin
2005
Mitochondrial dysfunction in human pathologies
2006
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
2003
Physiological functions of Atg6/Beclin 1: a unique autophagy-related protein
2007
Preferential loss of preproenkephalin versus preprotachykinin neurons from the striatum of Huntington's disease patients
1995
Membrane protein sequestering by ionic protein–lipid interactions
2011 StandoutNatureNobel
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease
2003
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
1993
G Protein-coupled Receptor Kinase GRK2 Is a Phospholipid-dependent Enzyme That Can Be Conditionally Activated by G Protein βγ Subunits
1996
Regional and progressive changes in brain expression of complexin II in a mouse transgenic for the Huntington’s Disease mutation
2004
Autophagy gone awry in neurodegenerative diseases
2010
Apoptosis in Huntington's disease
2003
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
Autophagy in the Pathogenesis of Disease
2008 Standout
Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9
2017
Potential therapeutic applications of autophagy
2007
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
1996
A huntingtin-associated protein enriched in brain with implications for pathology
1995 Nature
Regulation of G Protein-coupled Receptor Kinases by Calmodulin and Localization of the Calmodulin Binding Domain
1997
The roles of intracellular protein-degradation pathways in neurodegeneration
2006 Nature
Autophagy in Human Health and Disease
2013 Standout
Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats
2001 Nature
Transgenic models of Huntington's disease
1997
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
1995
Aggregate‐Prone Proteins Are Cleared from the Cytosol by Autophagy: Therapeutic Implications
2006
Molecular Basis of Genetic Instability of Triplet Repeats
1996
Huntingtin Is Present in the Nucleus, Interacts with the Transcriptional Corepressor C-terminal Binding Protein, and Represses Transcription
2002
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
SCA7 Knockin Mice Model Human SCA7 and Reveal Gradual Accumulation of Mutant Ataxin-7 in Neurons and Abnormalities in Short-Term Plasticity
2003
Aggregate formation inhibits proteasomal degradation of polyglutamine proteins
2002
Signalling and autophagy regulation in health, aging and disease
2006
Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study
2002
‘Tissue’ transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease
2002
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
2004
Distal spinal and bulbar muscular atrophy caused by dynactin mutation
2005
CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain
1995
The propagation of prion-like protein inclusions in neurodegenerative diseases
2010
Autophagy modulation as a potential therapeutic target for diverse diseases
2012 Standout
G-protein-coupled receptor regulation: role of G-protein-coupled receptor kinases and arrestins
1996
Neuropsychiatric aspects of Huntington's disease
2001
A Novel Multiple PDZ Domain-containing Molecule Interacting withN-Methyl-d-aspartateReceptors and Neuronal Cell Adhesion Proteins
1998 StandoutNobel
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy
1995
Identification of genes that modify ataxin-1-induced neurodegeneration
2000 Nature
Fatal Familial Insomnia and Familial Creutzfeldt‐Jakob Disease: Clinical, Pathological and Molecular Features
1995
Autophagy Genes Protect Against Disease Caused by Polyglutamine Expansion Proteins inCaenorhabditis elegans
2007
Altered Activity of Palmitoylation-deficient and Isoprenylated Forms of the G Protein-coupled Receptor Kinase GRK6
1997
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
1995 Nature
Basic mechanisms of neurodegeneration: a critical update
2010
Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear Inclusions
1998
Nuclear Targeting of Mutant Huntingtin Increases Toxicity
1999
Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
1995
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
1994 Nobel
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene
1993
Early changes in Huntington’s disease patient brains involve alterations in cytoskeletal and synaptic elements
2004
Self-eating and self-killing: crosstalk between autophagy and apoptosis
2007 Standout
Enhancing Macroautophagy Protects against Ischemia/Reperfusion Injury in Cardiac Myocytes
2006
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
Seven-transmembrane-spanning receptors and heart function
2002 StandoutNatureNobel
Structure of the nuclear transport complex karyopherin-β2–Ran˙GppNHp
1999 StandoutNatureNobel
The β2-adrenergic receptor interacts with the Na+/H+-exchanger regulatory factor to control Na+/H+ exchange
1998 StandoutNatureNobel
Suicide in Hungarian Huntington’s Disease Patients
2004
Reduced Penetrance of the Huntington's Disease Mutation
1997
Sequence Alignment with Tandem Duplication
1997
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Distinct antigen receptor repertoires of two classes of murine epithelium-associated T cells
1989 StandoutNatureNobel
Ataxin-1 Nuclear Localization and Aggregation
1998
DNA Secondary Structures and the Evolution of Hypervariable Tandem Arrays
1997
DRPLA gene (Atrophin-1) sequence and mRNA expression in human brain
1996
Polyglutamine aggregation behavior in vitro supports a recruitment mechanism of cytotoxicity
2001
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
2001
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
1996
Different phenotypic expression in monozygotic twins with Huntington disease
2003
Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine
2002
Exploring the repeat protein universe through computational protein design
2015 StandoutNatureNobel
Modulating huntingtin half‐life alters polyglutamine‐dependent aggregate formation and cell toxicity
2004
Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5
1994
Cellular Defenses against Unfolded Proteins
2001
Structural analysis of the 5′ region of mouse and human huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms
1995
On the Distribution of K -tuple Matches for Sequence Homology: A Constant Time Exact Calculation of the Variance
1998
Family history and DNA analysis in patients with suspected Huntington's disease
2000
Phosphatidylinositol 4,5-Bisphosphate (PIP2)-enhanced G Protein-coupled Receptor Kinase (GRK) Activity: LOCATION, STRUCTURE, AND REGULATION OF THE PIP2 BINDING SITE DISTINGUISHES THE GRK SUBFAMILIES
1996 StandoutNobel
The autophagy-related protein beclin 1 shows reduced expression in early Alzheimer disease and regulates amyloid β accumulation in mice
2008
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
Huntington disease: new insights on the role of huntingtin cleavage
2000
Molecular Neurobiology and Genetics: Investigation of Neural Function and Dysfunction
1998
Huntington’s disease: how does huntingtin, an anti-apoptotic protein, become toxic?
2004
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
2000
Location of agonist‐dependent‐phosphorylation sites in the third intracellular loop of muscarinic acetylcholine receptors (m2 subtype)
1994
Fly models of Huntington's disease
2003
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
The Neuropathology of Huntington’s Disease
2014
Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes
2003
Regulation of G protein-coupled Receptor Kinase 5 (GRK5) by Actin
1998 StandoutNobel
Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
1995
Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation
1996
Cellular senescence: hot or what?
2009
Activation of the cloned muscarinic potassium channel by G protein βγ subunits
1994 StandoutNatureNobel
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
Inhibition of G Protein-coupled Receptor Kinase Subtypes by Ca2+/Calmodulin
1996
Intranuclear Neuronal Inclusions: A Common Pathogenic Mechanism for Glutamine-Repeat Neurodegenerative Diseases?
1997
Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees
1997
THE ROLE OF RECEPTOR KINASES AND ARRESTINS IN G PROTEIN–COUPLED RECEPTOR REGULATION
1998
Evidence for a recruitment and sequestration mechanism in Huntington'sdisease
1999
Lithium induces autophagy by inhibiting inositol monophosphatase
2005
Huntingtin aggregates may not predict neuronal death in Huntington's disease
1999
Microsatellite instability: marker of a mutator phenotype in cancer.
1994
Significantly lower incidence of cancer among patients with Huntington disease
1999
Enhanced Morphine Analgesia in Mice Lacking β-Arrestin 2
1999 StandoutScienceNobel
Molecular cloning and expression of GRK6. A new member of the G protein-coupled receptor kinase family.
1993
Mutant Huntingtin Expression in Clonal Striatal Cells: Dissociation of Inclusion Formation and Neuronal Survival by Caspase Inhibition
1999
Aggrephagy: Selective Disposal of Protein Aggregates by Macroautophagy
2012
Expression, purification, and characterization of the G protein-coupled receptor kinase GRK6.
1994
Identification of additional members of human G-protein-coupled receptor kinase multigene family.
1993
Polypeptide variants of beta-arrestin and arrestin3
1993
The zinc-finger transcription factor Klf4 is required for terminal differentiation of goblet cells in the colon
2002
Therapeutic Effects of Cystamine in a Murine Model of Huntington's Disease
2002
Onset and rate of striatal atrophy in preclinical Huntington disease
2004
Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene
1995
Formation of morphologically similar globular aggregates from diverse aggregation-prone proteins in mammalian cells
2005
Isolation of an hMSH2-p160 Heterodimer That Restores DNA Mismatch Repair to Tumor Cells
1995 StandoutScienceNobel
Genome-wide analysis reveals mechanisms modulating autophagy in normal brain aging and in Alzheimer's disease
2010
A cell-based assay for aggregation inhibitors as therapeutics of polyglutamine-repeat disease and validation in Drosophila
2003
Benzodiazepine receptor binding in Huntington's disease: [11C]Flumazenil uptake measured using positron emission tomography
2000
Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells
1999
Glutamine Repeats and Neurodegeneration
2000
Huntington's disease: from pathology and genetics to potential therapies
2008
The new frontier of genome engineering with CRISPR-Cas9
2014 StandoutScienceNobel
Expression, purification, and characterization of the G protein-coupled receptor kinase GRK5.
1994
Benzodiazepine receptor binding in Huntington's disease: [11C]flumazenil uptake measured using positron emission tomography.
2000
Diversity of murine gamma genes and expression in fetal and adult T lymphocytes
1986 StandoutNatureNobel
μ-Opioid receptor desensitization by β-arrestin-2 determines morphine tolerance but not dependence
2000 StandoutNatureNobel
Specificity in intracellular protein aggregation and inclusion body formation
2001
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
fMRI biomarker of early neuronal dysfunction in presymptomatic Huntington's Disease.
2005
β-Arrestin 2: A Receptor-Regulated MAPK Scaffold for the Activation of JNK3
2000 StandoutScienceNobel
Huntington aggregates may not predict neuronal death in Huntington's disease.
1999
DNA analysis of Huntington’s disease
1999
Differentially regulated expression of the G-protein-coupled receptor kinases, betaARK and GRK6, during myelomonocytic cell development in vitro
1996
Comparative sequence analysis of the human and pufferfish Huntington's disease genes
1995 StandoutNobel
Neural Science
2000 StandoutNobel
Evidence for the Conformation of the Pathologic Isoform of the Prion Protein Enciphering and Propagating Prion Diversity
1996 StandoutScienceNobel
Monoclonal antibodies reveal receptor specificity among G-protein-coupled receptor kinases.
1996 StandoutNobel
Cloning and expression of GRK5: a member of the G protein-coupled receptor kinase family.
1993
T cell-specific gamma genes in C57BL/10 mice. Sequence and expression of new constant and variable region genes.
1986
Different G protein-coupled receptor kinases govern G protein and β-arrestin-mediated signaling of V2 vasopressin receptor
2005 StandoutNobel
Palmitoylation Increases the Kinase Activity of the G Protein-Coupled Receptor Kinase, GRK6
1998 StandoutNobel
Phospholipid-stimulated autophosphorylation activates the G protein-coupled receptor kinase GRK5.
1994
Prion Diseases and the BSE Crisis
1997 StandoutScienceNobel
Toxic Proteins in Neurodegenerative Disease
2002 Science
Expression of Normal and Mutant Huntingtin in the Developing Brain
1996
Molecular cloning of two rat GRK6 splice variants
1997
Structure of the human gene encoding the beta-adrenergic receptor kinase.
1994
A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.
1993
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
1990 StandoutScience
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
Familial influence on age of onset among siblings with Huntington disease*
2001
Expansion explosion: new clues to the pathogenesis of repeat expansion neurodegenerative diseases
2001
Site-Specific Cleavage of Human Chromosome 4 Mediated by Triple-Helix Formation
1991 Science
G PROTEIN–COUPLED RECEPTOR KINASES
1998 StandoutNobel
Cardiac Function in Mice Overexpressing the β-Adrenergic Receptor Kinase or a βARK Inhibitor
1995 StandoutScienceNobel
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
Interactions between wild-type and mutant prion proteins modulate neurodegeneration in transgenic mice.
1996
Neuroscience: Breaking Down Scientific Barriers to the Study of Brain and Mind
2000 StandoutScienceNobel
α-Synuclein impairs macroautophagy: implications for Parkinson’s disease
2010
Transcriptional dysregulation in Huntington’s disease
2000
Identification, purification, and characterization of GRK5, a member of the family of G protein-coupled receptor kinases.
1994 StandoutNobel
Oxidative Stress, Glutamate, and Neurodegenerative Disorders
1993 StandoutScience
High suicidal ideation in persons testing for Huntington's disease
2000
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
Disruption of Axonal Transport by Loss of Huntingtin or Expression of Pathogenic PolyQ Proteins in Drosophila
2003
Defined physical limits of the Huntington disease gene candidate region.
1991
CRISPR-Cas guides the future of genetic engineering
2018 StandoutScienceNobel
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
Huntington’s disease
2003
Autophagy-mediated clearance of huntingtin aggregates triggered by the insulin-signaling pathway
2006
Chaperoning brain degeneration
2002
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.
1995
The Double-Edged Sword of Autophagy Modulation in Cancer
2009
Inhibition of thrombin receptor signaling by a G-protein coupled receptor kinase. Functional specificity among G-protein coupled receptor kinases.
1994
Metals in Neurobiology: Probing Their Chemistry and Biology with Molecular Imaging
2008 Standout
Transduction of Receptor Signals by ß-Arrestins
2005 StandoutScienceNobel
Rat G Protein-Coupled Receptor Kinase GRK4: Identification, Functional Expression, and Differential Tissue Distribution of Two Splice Variants*
1998
A cellular model that recapitulates major pathogenic steps of Huntington's disease
1998
Structure and mechanism of the G protein-coupled receptor kinases.
1993 StandoutNobel
Altered transcription in yeast expressing expanded polyglutamine
2001
Works of Marcy E. MacDonald being referenced
Regulation of Intracellular Accumulation of Mutant Huntingtin by Beclin 1
2006
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
1998
IT15 gene expression in fetal human brain
1994
Huntington's disease: translating a CAG repeat into a pathogenic mechanism
1996
Huntingtin inhibits caspase‐3 activation
2006
The serum‐ and glucocorticoid‐induced kinase SGK inhibits mutant huntingtin‐induced toxicity by phosphorylating serine 421 of huntingtin
2004
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
2000
RESEARCH ARTICLE: Systematic Assessment of BDNF and Its Receptor Levels in Human Cortices Affected by Huntington's Disease
2008
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
1993
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion
1997
Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals
1995
A gene from chromosome 4p 16.3 with similarity to a superfamily of transporter proteins
1993
Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
2006
Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins
1998
Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains
1994
Molecular Genetics of Huntington's Disease
1993
Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice
2006
Polyglutamine-Expanded Human Huntingtin Transgenes Induce Degeneration of Drosophila Photoreceptor Neurons
1998
Neuropathogenic Forms of Huntingtin and Androgen Receptor Inhibit Fast Axonal Transport
2003
Molecular Genetics of Huntington’s Disease
1998
TBX-3, the Gene Mutated in Ulnar-Mammary Syndrome, Is a Negative Regulator of p19 and Inhibits Senescence
2002
Evidence implicating at least two genes on chromosome 17p in breast carcinogenesis
1990
A novel G protein-coupled receptor kinase gene cloned from 4p16.3
1992
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
1993
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library
1993
The direct screening of cosmid libraries with YAC clones
1991
Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease
2002
Mouse Huntington's disease gene homolog (Hdh)
1994
A dinucleotide repeat polymorphism at the D4S127 locus
1992
Differential Expression of Normal and Mutant Huntington's Disease Gene Alleles
1996
Detection by PCR of a VNTR polymorphism at D4S43
1991
Characterization of the G Protein-coupled Receptor Kinase GRK4
1996 StandoutNobel
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism
2005
Huntingtin: a single bait hooks many species
1998
Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules
2004
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease
1994
CAG repeat number governs the development rate of pathology in Huntington's disease
1997
Linkage, but not gene order, of homologous loci, including ?-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes
1992
Mutant Huntingtin Forms in Vivo Complexes with Distinct Context-Dependent Conformations of the Polyglutamine Segment
1999
Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models
2009
Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons
1997
Huntington's disease: CAG genetics expands neurobiology
1995
Frataxin gene of Friedreich's ataxia is targeted to mitochondria
1997
Construction of aNotI linking library and isolation of new markers close to the Huntington's disease gene
1988
A DNA Segment Encoding Two Genes Very Tightly Linked to Huntington's Disease
1987 Science
Evidence for the GluR6 gene associated with younger onset age of Huntington’s disease
1999
Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron
1999
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum
1995
1 H NMR spectroscopy studies of Huntington's disease
1998
Quantitative neuropathological changes in presymptomatic Huntington's disease
2001
Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh
1995 Science
Assessment of cortical and striatal involvement in 523 Huntington disease brains
2012
Gametic but not somatic instability of CAG repeat length in Huntington's disease.
1993
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Clonal analysis of early and late stages of erythroleukemia induced by molecular clones of integrated spleen focus-forming virus.
1981
The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts?
1997
TRINUCLEOTIDE INSTABILITY: A Repeating Theme in Human Inherited Disorders
1996
Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease
2001 Science
1996
Molecular Genetics of Huntington's Disease
1986
Trinucleotide repeat length and progression of illness in Huntington's disease.
1994
NONAGENARIANS WITH HUNTINGTON DISEASE (HD) HAVE LOW CAG REPEATS
1999
Quantitative neuropathological changes in presymptomatic Huntington's disease
2001