Citation Impact
Citing Papers
Increased susceptibility of cytoplasmic over nuclear polyglutamine aggregates to autophagic degradation
2005
Apoptosis in the nervous system
2000 StandoutNature
mTOR Signaling in Growth Control and Disease
2012 Standout
Huntingtin Is Ubiquitinated and Interacts with a Specific Ubiquitin-conjugating Enzyme
1996
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Organization of the Fugu rubripes Hox clusters: evidence for continuing evolution of vertebrate Hox complexes
1997 StandoutNobel
Maintenance of functional equivalence during paralogous Hox gene evolution
2000 StandoutNatureNobel
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
Molecular determinants of presynaptic active zones
2000
DXZ4 chromatin adopts an opposing conformation to that of the surrounding chromosome and acquires a novel inactive X-specific role involving CTCF and antisense transcripts
2008
The presynaptic cytomatrix of brain synapses
2001
The link between the GBA gene and parkinsonism
2012
Experience and Activity-Dependent Maturation of Perisomatic GABAergic Innervation in Primary Visual Cortex during a Postnatal Critical Period
2004
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Proteases Acting on Mutant Huntingtin Generate Cleaved Products that Differentially Build Up Cytoplasmic and Nuclear Inclusions
2002
Neuroligin-2 Deletion Selectively Decreases Inhibitory Synaptic Transmission Originating from Fast-Spiking but Not from Somatostatin-Positive Interneurons
2009 StandoutNobel
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
2004 StandoutNature
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
Slipped-strand DNAs formed by long (CAG)middle dot(CTG) repeats: slipped-out repeats and slip-out junctions
2002
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
1998
The Presynaptic Active Zone
2012 StandoutNobel
A Genomic and Functional Inventory of Deubiquitinating Enzymes
2005 Standout
Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy
2009
Cytosolic and mitochondrial ferritins in the regulation of cellular iron homeostasis and oxidative damage
2010
International Union of Basic and Clinical Pharmacology. LXXVI. Current Progress in the Mammalian TRP Ion Channel Family
2010
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
2006 StandoutNature
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
2000
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain
1997
Identification of the Ubiquitin Carrier Proteins, E2s, Involved in Signal-induced Conjugation and Subsequent Degradation of IκBα
1999 StandoutNobel
HDAC6 and Microtubules Are Required for Autophagic Degradation of Aggregated Huntingtin
2005
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Two to Tango: Regulation of Mammalian Iron Metabolism
2010 Standout
Molecular Genetics of Huntington’s Disease
1998
Machado-Joseph Disease: from first descriptions to new perspectives
2011
Parkinson's disease
2015 Standout
Molecular chaperones in protein folding and proteostasis
2011 StandoutNature
Evolutionarily Conserved Multiple C2 Domain Proteins with Two Transmembrane Regions (MCTPs) and Unusual Ca2+ Binding Properties
2004 StandoutNobel
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
1996
Proposed neuropathological criteria for the post mortem diagnosis of multiple system atrophy
2007
Atrophin-1, the DRPLA Gene Product, Interacts with Two Families of WW Domain-Containing Proteins
1998
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
1995
Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo
1996
Hox C Cluster Genes Are Dispensable for Overall Body Plan of Mouse Embryonic Development
2000
CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain
1995
A Novel Multiple PDZ Domain-containing Molecule Interacting withN-Methyl-d-aspartateReceptors and Neuronal Cell Adhesion Proteins
1998 StandoutNobel
Piccolo, a Presynaptic Zinc Finger Protein Structurally Related to Bassoon
2000
A Genomic Analysis of Rat Proteases and Protease Inhibitors
2004
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
1998
Redundant functions of RIM1α and RIM2α in Ca2+‐triggered neurotransmitter release
2006 StandoutNobel
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
A glass menagerie of low complexity sequences
2016
Evidence for Proteasome Involvement in Polyglutamine Disease: Localization to Nuclear Inclusions in SCA3/MJD and Suppression of Polyglutamine Aggregation in vitro
1999
Hoxc13 mutant mice lack external hair
1998 StandoutNobel
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Systematic Mutagenesis of α-Synuclein Reveals Distinct Sequence Requirements for Physiological and Pathological Activities
2012 StandoutNobel
α-Synuclein structure, posttranslational modification and alternative splicing as aggregation enhancers
2006
Functional Demarcation of Active and Silent Chromatin Domains in Human HOX Loci by Noncoding RNAs
2007 Standout
DRPLA gene (Atrophin-1) sequence and mRNA expression in human brain
1996
The Paralogous Hox Genes Hoxa10 and Hoxd10 Interact to Pattern the Mouse Hindlimb Peripheral Nervous System and Skeleton
2001
Hereditary dentatorubral–pallidoluysian atrophy
2000
A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
2014 Standout
Glucocerebrosidase and Parkinson disease: Recent advances
2015
Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders
2003 Nature
HoxGroup 3 Paralogs Regulate the Development and Migration of the Thymus, Thyroid, and Parathyroid Glands
1998 StandoutNobel
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
1999
Rapamycin Inhibits Polyglutamine Aggregation Independently of Autophagy by Reducing Protein Synthesis
2008
Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees
1997
RIM1α forms a protein scaffold for regulating neurotransmitter release at the active zone
2002 StandoutNatureNobel
Aczonin, a 550-Kd Putative Scaffolding Protein of Presynaptic Active Zones, Shares Homology Regions with Rim and Bassoon and Binds Profilin
1999
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
DNA instability in postmitotic neurons
2008
Mechanisms of transcriptional dysregulation in Huntington's disease
2003
Hox10 and Hox11 Genes Are Required to Globally Pattern the Mammalian Skeleton
2003 StandoutScienceNobel
Glutamine Repeats and Neurodegeneration
2000
Intrinsic disorder in proteins associated with neurodegenerative diseases
2009
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones
2002 StandoutNobel
Classification of Intrinsically Disordered Regions and Proteins
2014 Standout
Small molecule probes to quantify the functional fraction of a specific protein in a cell with minimal folding equilibrium shifts
2014 StandoutNobel
The mammalian central nervous synaptic cleft contains a high density of periodically organized complexes
2005 StandoutNobel
Hoxb-13: a new Hox gene in a distant region of the HOXB cluster maintains colinearity
1996
Paralogous mouse Hox genes, Hoxa9, Hoxb9, and Hoxd9, function together to control development of the mammary gland in response to pregnancy
1999 StandoutNobel
Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity
2003
Emerging Targets in Photopharmacology
2016 StandoutNobel
Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses
1997
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain
1997 StandoutScience
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Piccolo and bassoon maintain synaptic vesicle clustering without directly participating in vesicle exocytosis
2010 StandoutNobel
Second consensus statement on the diagnosis of multiple system atrophy
2008 Standout
THE UBIQUITIN SYSTEM
1998 StandoutNobel
Impairment of the Ubiquitin-Proteasome System by Protein Aggregation
2001 StandoutScience
Liquid phase condensation in cell physiology and disease
2017 StandoutScience
CASK Participates in Alternative Tripartite Complexes in which Mint 1 Competes for Binding with Caskin 1, a Novel CASK-Binding Protein
2002 StandoutNobel
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of Jun Goto being referenced
Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain
1995
Machado–Joseph Disease Gene Product Identified in Lymphocytes and Brain
1997
Formic Acid Dissolves Aggregates of an N-Terminal Huntingtin Fragment Containing an Expanded Polyglutamine Tract: Applying to Quantification of Protein Components of the Aggregates
2000
Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease
2009
Organization and expression of mouse Hox3 cluster genes
1993
Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral‐pallidoluysian atrophy, machado‐joseph disease, and spinocerebellar ataxia type 1
1997
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
1994
A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype–phenotype correlations
2009
The genomic structure and expression of MJD, the Machado-Joseph disease gene
2001
Enhanced SUMOylation in polyglutamine diseases
2002
Cloning and Mapping of ZNF231, a Novel Brain-Specific Gene Encoding Neuronal Double Zinc Finger Protein Whose Expression Is Enhanced in a Neurodegenerative Disorder, Multiple System Atrophy (MSA)
1998
Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene
2002
Ultrastructure of nuclear aggregates formed by expressing an expanded polyglutamine
2002
Rapid Aggregate Formation of the Huntingtin N-Terminal Fragment Carrying an Expanded Polyglutamine Tract
1999
Identification of a Novel Human Voltage-Gated Sodium Channel α Subunit Gene, SCN12A
2000
Sporadic ataxias in Japan – a population-based epidemiological study
2008
Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA)
2001
Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients
1997
Multiplex Families With Multiple System Atrophy
2007
Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease
1995
TRPM7 is not associated with amyotrophic lateral sclerosis‐parkinsonism dementia complex in the Kii peninsula of Japan
2009