From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation

Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3

(2019) Xiaoqin Yuan et al.   Frontiers in Neurology

Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms

(2019) Shala G. Berntsson et al.   STEREOTACTIC AND FUNCTIONAL NEUROSURGERY

Guidelines on the diagnosis and management of the progressive ataxias

(2019) Rajith de Silva et al.   Orphanet Journal of Rare Diseases

The proteostasis network and its decline in ageing

(2019) Mark S. Hipp et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

RNAi therapy for Machado-Joseph disease: long-term safety profile of lentiviral vectors encoding shRNAs targeting mutant ataxin-3

(2019) Clévio Nobrega et al.   HUMAN GENE THERAPY

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia

(2019) Clévio Nóbrega et al.   ACTA NEUROPATHOLOGICA

Altered Levels of Proteins and Phosphoproteins, in the Absence of Early Causative Transcriptional Changes, Shape the Molecular Pathogenesis in the Brain of Young Presymptomatic Ki91 SCA3/MJD Mouse

(2019) Kalina Wiatr et al.   MOLECULAR NEUROBIOLOGY

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice

(2018) Hayley S. McLoughlin et al.   ANNALS OF NEUROLOGY

Structural signature of SCA3: from presymptomatic to late disease stages

(2018) Thiago Junqueira Ribeiro Rezende et al.   ANNALS OF NEUROLOGY

Divalproex sodium modulates nuclear localization of ataxin-3 and prevents cellular toxicity caused by expanded ataxin-3

(2018) Zi-Jian Wang et al.   CNS Neuroscience & Therapeutics

Management of hypertonia in cerebral palsy

(2018) Nickolas J. Nahm et al.   CURRENT OPINION IN PEDIATRICS

Machado-Joseph disease / Spinocerebellar ataxia type 3:lessons from disease pathogenesis and clues into therapy

(2018) Carlos Matos et al.   JOURNAL OF NEUROCHEMISTRY

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

(2018) Lodewijk J. A. Toonen et al.   Molecular Neurodegeneration

Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3

(2018) Sara Duarte-Silva et al.   MOVEMENT DISORDERS

Mass spectrometry analyses of normal and polyglutamine expanded ataxin-3 reveal novel interaction partners involved in mitochondrial function

(2018) Line V. Kristensen et al.   NEUROCHEMISTRY INTERNATIONAL

CRISPR/Cas9-Targeted Deletion of Polyglutamine in Spinocerebellar Ataxia Type 3-Derived Induced Pluripotent Stem Cells

(2018) Shuming Ouyang et al.   STEM CELLS AND DEVELOPMENT

A randomized controlled pilot trial of game-based training in individuals with spinocerebellar ataxia type 3

(2018) Ray-Yau Wang et al.   Scientific Reports

Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado-Joseph disease models

(2018) Adriana Marcelo et al.   HUMAN MOLECULAR GENETICS

Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph Disease

(2018) Sofia Esteves et al.   MOLECULAR NEUROBIOLOGY

Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease

(2018) Naila S. Ashraf et al.   MOLECULAR NEUROBIOLOGY

Upregulation of miR-370 and miR-543 is associated with reduced expression of heat shock protein 40 in spinocerebellar ataxia type 3

(2018) Bernd O. Evert et al.   PLoS One

Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways

(2018) Li Zeng et al.   PLoS One

Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease

(2018) Álvaro Mendes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Distinct proteostasis circuits cooperate in nuclear and cytoplasmic protein quality control

(2018) Rahul S. Samant et al.   NATURE

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

(2018) Tina Harmuth et al.   Frontiers in Molecular Neuroscience

Nusinersen for the treatment of spinal muscular atrophy

(2017) Claudia A. Chiriboga   Expert Review of Neurotherapeutics

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

(2017) Tjitske F. Lawerman et al.   Frontiers in Human Neuroscience

Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3

(2017) Joanna R. Sutton et al.   HUMAN MOLECULAR GENETICS

Pathways of cellular proteostasis in aging and disease

(2017) Courtney L. Klaips et al.   JOURNAL OF CELL BIOLOGY

Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease

(2017) Vitor Carmona et al.   MOLECULAR THERAPY

Polyglutamine tracts regulate beclin 1-dependent autophagy

(2017) Avraham Ashkenazi et al.   NATURE

Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients

(2017) Annie Sittler et al.   NEUROPATHOLOGY

n -Butylidenephthalide exhibits protection against neurotoxicity through regulation of tryptophan 2, 3 dioxygenase in spinocerebellar ataxia type 3

(2017) Karthyayani Rajamani et al.   NEUROPHARMACOLOGY

Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov

(2017) Siew Wan Hee et al.   Orphanet Journal of Rare Diseases

Nusinersen for the treatment of spinal muscular atrophy

(2017) Claudia A. Chiriboga   Expert Review of Neurotherapeutics

Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models

(2017) Lauren R. Moore et al.   Molecular Therapy-Nucleic Acids

Validity and reliability of the International Cooperative Ataxia Rating Scale (ICARS) and the Scale for the Assessment and Rating of Ataxia (SARA) in multiple sclerosis patients with ataxia

(2017) Yeliz Salcı et al.   Multiple Sclerosis and Related Disorders

Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3

(2016) Maria do Carmo Costa et al.   BRAIN

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema

(2016) C. Tzoulis et al.   CEREBELLUM

History of Orphan Drug Regulation-United States and Beyond

(2016) ME Haffner   CLINICAL PHARMACOLOGY & THERAPEUTICS

Protein quality control in the nucleus

(2016) Ramon D Jones et al.   CURRENT OPINION IN CELL BIOLOGY

Reliability and discriminant validity of ataxia rating scales in early onset ataxia

(2016) Rick Brandsma et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Outcome of Rehabilitation and Swallowing Therapy after Percutaneous Endoscopic Gastrostomy in Dysphagia Patients

(2016) Ezekiel Wong Toh Yoon et al.   DYSPHAGIA

Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models

(2016) Carlos A. Matos et al.   JOURNAL OF CELL BIOLOGY

In vivoassessment of riluzole as a potential therapeutic drug for spinocerebellar ataxia type 3

(2016) Jana Schmidt et al.   JOURNAL OF NEUROCHEMISTRY

Chronic ingestion of a low dose of caffeine induces tolerance to the performance benefits of caffeine

(2016) Ross Beaumont et al.   JOURNAL OF SPORTS SCIENCES

Pharmacological management of spasticity in multiple sclerosis: Systematic review and consensus paper

(2016) Susana Otero-Romero et al.   Multiple Sclerosis Journal

Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache

(2016) David M. Simpson et al.   NEUROLOGY

Safety and efficacy of valproic acid treatment in SCA3/MJD patients

(2016) Li-Fang Lei et al.   PARKINSONISM & RELATED DISORDERS

Botulinum Toxin Treatment of Spasticity in Adults and Children

(2016) Iman Moeini-Naghani et al.   SEMINARS IN NEUROLOGY

Caloric restriction blocks neuropathology and motor deficits in Machado–Joseph disease mouse models through SIRT1 pathway

(2016) Janete Cunha-Santos et al.   Nature Communications

The Machado–Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53

(2016) Hongmei Liu et al.   PLOS BIOLOGY

Pharmacological management of spasticity in multiple sclerosis: Systematic review and consensus paper

(2016) Susana Otero-Romero et al.   Multiple Sclerosis Journal

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

(2015) Jose Bras et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease

(2015) Andreia Teixeira-Castro et al.   BRAIN

Neurogenic muscle cramps

(2015) Hans D. Katzberg   JOURNAL OF NEUROLOGY

Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial

(2015) Jonas Alex Morales Saute et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

(2015) Silvia Romano et al.   LANCET NEUROLOGY

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

(2015) Heike Jacobi et al.   LANCET NEUROLOGY

Neuropathic Pain: Principles of Diagnosis and Treatment

(2015) Ian Gilron et al.   MAYO CLINIC PROCEEDINGS

The deubiquitinase ataxin-3 requires Rad23 and DnaJ-1 for its neuroprotective role in Drosophila melanogaster

(2015) Wei-Ling Tsou et al.   NEUROBIOLOGY OF DISEASE

T1-11 and JMF1907 ameliorate polyglutamine-expanded ataxin-3-induced neurodegeneration, transcriptional dysregulation and ataxic symptom in the SCA3 transgenic mouse

(2015) An-Hsun Chou et al.   NEUROPHARMACOLOGY

A guideline for the management of bladder dysfunction in Parkinson's disease and other gait disorders

(2015) Ryuji Sakakibara et al.   NEUROUROLOGY AND URODYNAMICS

Chemodenervation for treatment of limb spasticity following spinal cord injury: a systematic review

(2015) J Lui et al.   SPINAL CORD

Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

(2015) Trevor Richter et al.   VALUE IN HEALTH

Ataxin-3, DNA Damage Repair, and SCA3 Cerebellar Degeneration: On the Path to Parsimony?

(2015) Jacqueline M. Ward et al.   PLoS Genetics

Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

(2015) Rui Gao et al.   PLoS Genetics

The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3’-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis

(2015) Arpita Chatterjee et al.   PLoS Genetics

Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease

(2015) Sofia Esteves et al.   PLoS One

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

(2014) Adriana Moro et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Polyglutamine-expanded ataxin-3 impairs long-term depression in Purkinje neurons of SCA3 transgenic mouse by inhibiting HAT and impairing histone acetylation

(2014) An-Hsun Chou et al.   BRAIN RESEARCH

Lithium Chloride Therapy Fails to Improve Motor Function in a Transgenic Mouse Model of Machado-Joseph Disease

(2014) Sara Duarte-Silva et al.   CEREBELLUM

How the Nucleus Copes with Proteotoxic Stress

(2014) Yoko Shibata et al.   CURRENT BIOLOGY

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

(2014) B. P. C. van de Warrenburg et al.   EUROPEAN JOURNAL OF NEUROLOGY

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells

(2014) Andreia Neves-Carvalho et al.   HUMAN MOLECULAR GENETICS

Valproic acid attenuates the suppression of acetyl histone H3 and CREB activity in an inducible cell model of Machado–Joseph disease

(2014) X.P. Lin et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases

(2014) Laura P. Forsythe et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Differential mtDNA Damage Patterns in a Transgenic Mouse Model of Machado–Joseph Disease (MJD/SCA3)

(2014) Amanda Ramos et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

CDK5 protects from caspase-induced Ataxin-3 cleavage and neurodegeneration

(2014) Jan Liman et al.   JOURNAL OF NEUROCHEMISTRY

A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease

(2014) Jonas Alex Morales Saute et al.   MOVEMENT DISORDERS

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Chronic Treatment with 17-DMAG Improves Balance and Coordination in A New Mouse Model of Machado-Joseph Disease

(2014) Anabela Silva-Fernandes et al.   Neurotherapeutics

Protein aggregation can inhibit clathrin-mediated endocytosis by chaperone competition

(2014) A. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Proteostasis impairment in protein-misfolding and -aggregation diseases

(2014) Mark S. Hipp et al.   TRENDS IN CELL BIOLOGY

Ubiquitin-binding site 2 of ataxin-3 prevents its proteasomal degradation by interacting with Rad23

(2014) Jessica R. Blount et al.   Nature Communications

Aggregation of polyglutamine-expanded ataxin-3 sequesters its specific interacting partners into inclusions: Implication in a loss-of-function pathology

(2014) Hui Yang et al.   Scientific Reports

Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado–Joseph disease

(2013) Isabel Nascimento-Ferreira et al.   BRAIN

Mutant Ataxin-3 with an Abnormally Expanded Polyglutamine Chain Disrupts Dendritic Development and Metabotropic Glutamate Receptor Signaling in Mouse Cerebellar Purkinje Cells

(2013) Ayumu Konno et al.   CEREBELLUM

The effectiveness of allied health care in patients with ataxia: a systematic review

(2013) Ella M. R. Fonteyn et al.   JOURNAL OF NEUROLOGY

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

SUMO-1 Modification on K166 of PolyQ-Expanded aTaxin-3 Strengthens Its Stability and Increases Its Cytotoxicity

(2013) Ya-Fang Zhou et al.   PLoS One

Sodium Valproate Alleviates Neurodegeneration in SCA3/MJD via Suppressing Apoptosis and Rescuing the Hypoacetylation Levels of Histone H3 and H4

(2013) Jiping Yi et al.   PLoS One

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

(2013) Udo Rüb et al.   PROGRESS IN NEUROBIOLOGY

Challenges and opportunities of drug repositioning

(2013) Natalia Novac   TRENDS IN PHARMACOLOGICAL SCIENCES

Side-effects associated with targeted therapies in renal cell carcinoma

(2013) Denis Soulières   Current Opinion in Supportive and Palliative Care

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

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

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

(2012) J. Hubener et al.   HUMAN MOLECULAR GENETICS

Ataxin-3 Regulates Aggresome Formation of Copper-Zinc Superoxide Dismutase (SOD1) by Editing K63-linked Polyubiquitin Chains

(2012) Hongfeng Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Automated Behavioral Phenotyping Reveals Presymptomatic Alterations in a SCA3 Genetrap Mouse Model

(2012) Jeannette Hübener et al.   Journal of Genetics and Genomics

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

A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3

(2012) T. A. Zesiewicz et al.   NEUROLOGY

A protective effect of 5-HT3 antagonist against vestibular deficit? Metoclopramide versus ondansetron at the early stage of vestibular neuritis: A pilot study

(2012) F. Venail et al.   European Annals of Otorhinolaryngology-Head and Neck Diseases

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

Calcium and cell death mechanisms: A perspective from the cell death community

(2011) Boris Zhivotovsky et al.   CELL CALCIUM

Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)

(2011) W. Scherzed et al.   CEREBELLUM

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

Excitation-induced ataxin-3 aggregation in neurons from patients with Machado–Joseph disease

(2011) Philipp Koch et al.   NATURE

European regulation on orphan medicinal products: 10 years of experience and future perspectives

(2011)   NATURE REVIEWS DRUG DISCOVERY

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study

(2011) H. Jacobi et al.   NEUROLOGY

Machado-Joseph Disease: from first descriptions to new perspectives

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

Elevated cerebrospinal fluid lactate/pyruvate ratio in Machado-Joseph disease

(2010) T. Matsuishi et al.   ACTA NEUROLOGICA SCANDINAVICA

Axonal inclusions in spinocerebellar ataxia type 3

(2010) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA)

(2010) Pedro Braga-Neto et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

(2010) R.C.R. Silva et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

Difference in the Effects of Tandospirone on Ataxia in Various Types of Spinocerebellar Degeneration: An Open-Label Study

(2010) Asako Takei et al.   CEREBELLUM

Neuropsychological Features of Patients with Spinocerebellar Ataxia (SCA) Types 1, 2, 3, and 6

(2010) Ina Klinke et al.   CEREBELLUM

Resveratrol: Challenges in Translation to the Clinic -- A Critical Discussion

(2010) L. Subramanian et al.   CLINICAL CANCER RESEARCH

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

Deep brain stimulation in the posterior subthalamic area in the treatment of essential tremor

(2010) Patric Blomstedt et al.   MOVEMENT DISORDERS

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

p53 activation mediates polyglutamine-expanded ataxin-3 upregulation of Bax expression in cerebellar and pontine nuclei neurons

(2010) An-Hsun Chou et al.   NEUROCHEMISTRY INTERNATIONAL

Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial

(2010) G. Ristori et al.   NEUROLOGY

Practice Parameter: Pharmacologic treatment of spasticity in children and adolescents with cerebral palsy (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2010) M. R. Delgado et al.   NEUROLOGY

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

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

Polyglutamine Diseases: Where does Toxicity Come from? What is Toxicity? Where are We Going?

(2010) T. Takahashi et al.   Journal of Molecular Cell Biology

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

New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado–Joseph disease)

(2009) Udo Rüb et al.   CURRENT OPINION IN NEUROLOGY

Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3

(2009) Sokol V Todi et al.   EMBO JOURNAL

What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare

(2009) Caroline Huyard   HEALTH EXPECTATIONS

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

(2009) Joonil Jung et al.   HUMAN MOLECULAR GENETICS

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

(2009) Thorsten Mueller et al.   HUMAN MOLECULAR GENETICS

Axonal Dysfunction in the Deep White Matter in Machado-Joseph Disease

(2009) Anelyssa D'Abreu et al.   JOURNAL OF NEUROIMAGING

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

Evidence-Based Recommendations for the Assessment and Management of Sleep Disorders in Older Persons

(2009) Harrison G. Bloom et al.   JOURNAL OF THE AMERICAN GERIATRICS SOCIETY

Intensive coordinative training improves motor performance in degenerative cerebellar disease

(2009) W. Ilg et al.   NEUROLOGY

Caring for Machado–Joseph disease: Current understanding and how to help patients

(2009) Anelyssa D'Abreu et al.   PARKINSONISM & RELATED DISORDERS

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM

Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease

(2008) Sandro Alves et al.   HUMAN MOLECULAR GENETICS

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

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

Empowerment of patients: lessons from the rare diseases community

(2008) Ségolène Aymé et al.   LANCET

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