Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies

Caffeine and adenosine A2Areceptor inactivation decrease striatal neuropathology in a lentiviral-based model of Machado-Joseph disease

(2013) Nélio Gonçalves et al.   ANNALS OF NEUROLOGY

Aggregation of polyQ-extended proteins is promoted by interaction with their natural coiled-coil partners

(2013) Spyros Petrakis et al.   BIOESSAYS

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

(2013) Melvin M. Evers et al.   NEUROBIOLOGY OF DISEASE

H1152 promotes the degradation of polyglutamine-expanded ataxin-3 or ataxin-7 independently of its ROCK-inhibiting effect and ameliorates mutant ataxin-3-induced neurodegeneration in the SCA3 transgenic mouse

(2013) Hung-Li Wang et al.   NEUROPHARMACOLOGY

ss-siRNAs allele selectively inhibit ataxin-3 expression: multiple mechanisms for an alternative gene silencing strategy

(2013) Jing Liu et al.   NUCLEIC ACIDS RESEARCH

RNA duplexes with abasic substitutions are potent and allele-selective inhibitors of huntingtin and ataxin-3 expression

(2013) J. Liu et al.   NUCLEIC ACIDS RESEARCH

Simultaneous Measurement of Amyloid Fibril Formation by Dynamic Light Scattering and Fluorescence Reveals Complex Aggregation Kinetics

(2013) Aaron M. Streets et al.   PLoS One

Silencing Mutant Ataxin-3 Rescues Motor Deficits and Neuropathology in Machado-Joseph Disease Transgenic Mice

(2013) Clévio Nóbrega et al.   PLoS One

Cerebellar Soluble Mutant Ataxin-3 Level Decreases during Disease Progression in Spinocerebellar Ataxia Type 3 Mice

(2013) Huu Phuc Nguyen et al.   PLoS One

First-in-Humans Trial of an RNA Interference Therapeutic Targeting VEGF and KSP in Cancer Patients with Liver Involvement

(2013) Josep Tabernero et al.   Cancer Discovery

Ataxin-3 and Its E3 Partners: Implications for Machado–Joseph Disease

(2013) Thomas M. Durcan et al.   Frontiers in Neurology

Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model

(2012) Abiodun Ajayi et al.   BMC NEUROSCIENCE

Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease

(2012) A. T. Simoes et al.   BRAIN

Splice Modulating Therapies for Human Disease

(2012) Pietro Spitali et al.   CELL

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families

(2012) HA Teive et al.   Clinics

Roles of p97-Associated Deubiquitinases in Protein Quality Control at the Endoplasmic Reticulum

(2012) Yanfen Liu et al.   CURRENT PROTEIN & PEPTIDE SCIENCE

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

(2012) Shawn J. Stochmanski et al.   HUMAN MOLECULAR GENETICS

Cell biology of spinocerebellar ataxia

(2012) Harry T. Orr   JOURNAL OF CELL BIOLOGY

The incidence and prevalence of Huntington's disease: A systematic review and meta-analysis

(2012) Tamara Pringsheim et al.   MOVEMENT DISORDERS

Patterns of Mitochondrial DNA Damage in Blood and Brain Tissues of a Transgenic Mouse Model of Machado-Joseph Disease

(2012) Nadiya Kazachkova et al.   Neurodegenerative Diseases

Mechanism(s) of Alteration of Micro RNA Expressions in Huntington’s Disease and Their Possible Contributions to the Observed Cellular and Molecular Dysfunctions in the Disease

(2012) Mithun Sinha et al.   NEUROMOLECULAR MEDICINE

Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis

(2012) Holly B. Kordasiewicz et al.   NEURON

Valosin-Containing Protein (VCP/p97) Is an Activator of Wild-Type Ataxin-3

(2012) Mário N. Laço et al.   PLoS One

Caspases in synaptic plasticity

(2012) Zheng Li et al.   Molecular Brain

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

(2012) Mónica Bañez-Coronel et al.   PLoS Genetics

Compromised mitochondrial complex II in models of Machado–Joseph disease

(2011) Mário N. Laço et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Antioxidants in Huntington's disease

(2011) Ashu Johri et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Josephin Domain Determines the Morphological and Mechanical Properties of Ataxin-3 Fibrils

(2011) Laura Masino et al.   BIOPHYSICAL JOURNAL

Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado–Joseph disease

(2011) Isabel Nascimento-Ferreira et al.   BRAIN

N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation

(2011) Jeannette Hübener et al.   BRAIN

FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3

(2011) Julieta Araujo et al.   HUMAN MOLECULAR GENETICS

Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans : rescue by the DAF-16 and HSF-1 pathways

(2011) Andreia Teixeira-Castro et al.   HUMAN MOLECULAR GENETICS

A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression

(2011) Daniel W. Chung et al.   HUMAN MOLECULAR GENETICS

Ataxin-3 Deubiquitination Is Coupled to Parkin Ubiquitination via E2 Ubiquitin-conjugating Enzyme

(2011) Thomas M. Durcan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Ube2w and Ataxin-3 Coordinately Regulate the Ubiquitin Ligase CHIP

(2011) K. Matthew Scaglione et al.   MOLECULAR CELL

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

(2011) Frédérique Rau et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

CTCF Regulates Ataxin-7 Expression through Promotion of a Convergently Transcribed, Antisense Noncoding RNA

(2011) Bryce L. Sopher et al.   NEURON

CAG repeats mimic CUG repeats in the misregulation of alternative splicing

(2011) Agnieszka Mykowska et al.   NUCLEIC ACIDS RESEARCH

Machado-Joseph Disease: from first descriptions to new perspectives

(2011) Conceição Bettencourt et al.   Orphanet Journal of Rare Diseases

Absence of Ataxin-3 Leads to Enhanced Stress Response in C. elegans

(2011) Ana João Rodrigues et al.   PLoS One

Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide

(2011) Melvin M. Evers et al.   PLoS One

Effects of a Single Dose of Dantrolene in Patients With Cerebral Vasospasm After Subarachnoid Hemorrhage

(2011) Susanne Muehlschlegel et al.   STROKE

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

Antisense-Mediated RNA Targeting: Versatile and Expedient Genetic Manipulation in the Brain

(2011) Ioannis Zalachoras et al.   Frontiers in Molecular Neuroscience

Axonal inclusions in spinocerebellar ataxia type 3

(2010) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death

(2010) Ana-João Rodrigues et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans

(2010) Li-Chun Wang et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3?

(2010) Sandro Alves et al.   HUMAN MOLECULAR GENETICS

The Machado–Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability

(2010) Thomas M. Durcan et al.   HUMAN MOLECULAR GENETICS

Activity and Cellular Functions of the Deubiquitinating Enzyme and Polyglutamine Disease Protein Ataxin-3 Are Regulated by Ubiquitination at Lysine 117

(2010) Sokol V. Todi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nuclear Aggregation of Polyglutamine-expanded Ataxin-3

(2010) Peter Breuer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early or Late-Stage Anti-N-Terminal Huntingtin Intrabody Gene Therapy Reduces Pathological Features in B6.HDR6/1 Mice

(2010) Abigail Snyder-Keller et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Safety and tolerability of high-dosage coenzyme Q10 in Huntington's disease and healthy subjects

(2010)   MOVEMENT DISORDERS

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: Conclusions from double-transgenic mouse models

(2010) Jeannette Hübener et al.   NEUROBIOLOGY OF DISEASE

K63-linked ubiquitination and neurodegeneration

(2010) Kah-Leong Lim et al.   NEUROBIOLOGY OF DISEASE

HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3

(2010) An-Hsun Chou et al.   NEUROBIOLOGY OF DISEASE

Mouse Ataxin-3 Functional Knock-Out Model

(2010) Pawel M. Switonski et al.   NEUROMOLECULAR MEDICINE

Understanding the Role of the Josephin Domain in the PolyUb Binding and Cleavage Properties of Ataxin-3

(2010) Giuseppe Nicastro et al.   PLoS One

Ataxin-3 Plays a Role in Mouse Myogenic Differentiation through Regulation of Integrin Subunit Levels

(2010) Maria do Carmo Costa et al.   PLoS One

Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties

(2010) Ginny Marie Harris et al.   PLoS One

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Josephin domain of ataxin-3 contains two distinct ubiquitin-binding sites

(2009) Giuseppe Nicastro et al.   BIOPOLYMERS

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

(2009) Fiona M. Menzies et al.   BRAIN

Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3

(2009) Sokol V Todi et al.   EMBO JOURNAL

Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3

(2009) Joonil Jung et al.   HUMAN MOLECULAR GENETICS

Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3

(2009) Jana Boy et al.   HUMAN MOLECULAR GENETICS

CK2-dependent phosphorylation determines cellular localization and stability of ataxin-3

(2009) Thorsten Mueller et al.   HUMAN MOLECULAR GENETICS

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

(2009) Peter O. Bauer et al.   JOURNAL OF NEUROCHEMISTRY

Decreased antioxidant enzyme activity and increased mitochondrial DNA damage in cellular models of Machado-Joseph disease

(2009) Ya-Chun Yu et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Identification and functional dissection of localization signals within ataxin-3

(2009) Paul Michel Aloyse Antony et al.   NEUROBIOLOGY OF DISEASE

Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3)

(2009) Conceição Bettencourt et al.   NEUROGENETICS

Conformational Targeting of Fibrillar Polyglutamine Proteins in Live Cells Escalates Aggregation and Cytotoxicity

(2009) Erik Kvam et al.   PLoS One

Nucleocytoplasmic Shuttling Activity of Ataxin-3

(2009) Sandra Macedo-Ribeiro et al.   PLoS One

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM

The Deubiquitinating Enzyme Ataxin-3, a Polyglutamine Disease Protein, Edits Lys63Linkages in Mixed Linkage Ubiquitin Chains

(2008) Brett J. Winborn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Suppression of neuropil aggregates and neurological symptoms by an intracellular antibody implicates the cytoplasmic toxicity of mutant huntingtin

(2008) Chuan-En Wang et al.   JOURNAL OF CELL BIOLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

(2008) X. Chen et al.   JOURNAL OF NEUROSCIENCE

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE

Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation

(2008) An-Hsun Chou et al.   NEUROBIOLOGY OF DISEASE

Study of subcellular localization and proteolysis of ataxin-3

(2008) Chiara Pozzi et al.   NEUROBIOLOGY OF DISEASE

Homozygosity Enhances Severity in Spinocerebellar Ataxia Type 3

(2008) Daniel R. Carvalho et al.   PEDIATRIC NEUROLOGY

Allele-Specific RNA Silencing of Mutant Ataxin-3 Mediates Neuroprotection in a Rat Model of Machado-Joseph Disease

(2008) Sandro Alves et al.   PLoS One

The Antisense Transcriptomes of Human Cells

(2008) Yiping He et al.   SCIENCE

Oxidative stress in neurodegeneration in dentatorubral-pallidoluysian atrophy

(2007) Rie Miyata et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES