Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado–Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies

Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease

(2020) Jonasz J Weber et al.   HUMAN MOLECULAR GENETICS

Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials

(2020) Masatoyo Nishizawa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Targeting Ubiquitin Proteasome Pathway with Traditional Chinese Medicine for Treatment of Spinocerebellar Ataxia Type 3

(2019) I-Cheng Chen et al.   AMERICAN JOURNAL OF CHINESE MEDICINE

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

(2019) Ronald A.M. Buijsen et al.   Neurotherapeutics

Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?

(2019) Tianjiao Li et al.   Frontiers in Genetics

Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role for glutamate in disease pathology

(2019) Ching-Yu Chuang et al.   Scientific Reports

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

Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado-Joseph disease models

(2019) Liliana S Mendonça et al.   HUMAN MOLECULAR GENETICS

Identification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado–Joseph disease

(2019) Xiaocan Hou et al.   Epigenomics

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

(2019) Clévio Nóbrega et al.   ACTA NEUROPATHOLOGICA

CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington’s disease

(2019) Radhia Kacher et al.   BRAIN

Protective roles of carbonic anhydrase 8 in Machado–Joseph Disease

(2019) Mingli Hsieh et al.   JOURNAL OF NEUROSCIENCE RESEARCH

CYP46A1 Activation by Efavirenz Leads to Behavioral Improvement without Significant Changes in Amyloid Plaque Load in the Brain of 5XFAD Mice

(2019) Alexey M. Petrov et al.   Neurotherapeutics

Metabolic Profiling Reveals Biochemical Pathways and Potential Biomarkers of Spinocerebellar Ataxia 3

(2019) Zhi-hua Yang et al.   Frontiers in Molecular Neuroscience

NPC 1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP 46A1 activation

(2019) Daniel N Mitroi et al.   EMBO REPORTS

Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line

(2019) Lauren R. Moore et al.   Stem Cell Research

The Machado–Joseph disease deubiquitylase ataxin‐3 interacts with LC3C/GABARAP and promotes autophagy

(2019) Laura K. Herzog et al.   AGING CELL

Circulating palmitoleic acid is an independent determinant of insulin sensitivity, beta cell function and glucose tolerance in non-diabetic individuals: a longitudinal analysis

(2019) Domenico Tricò et al.   DIABETOLOGIA

GST-4-Dependent Suppression of Neurodegeneration in C. elegans Models of Parkinson’s and Machado-Joseph Disease by Rapeseed Pomace Extract Supplementation

(2019) Franziska Pohl et al.   Frontiers in Neuroscience

Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development

(2018) Etsuko Shimobayashi et al.   Current Neuropharmacology

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

(2018) Carlos Matos et al.   JOURNAL OF NEUROCHEMISTRY

Tissue-Specific Upregulation of Drosophila Insulin Receptor (InR) Mitigates Poly(Q)-Mediated Neurotoxicity by Restoration of Cellular Transcription Machinery

(2018) Kritika Raj et al.   MOLECULAR NEUROBIOLOGY

Experimental and Clinical Strategies for Treating Spinocerebellar Ataxia Type 3

(2018) Zijian Wang   NEUROSCIENCE

Karyopherin α-3 is a key protein in the pathogenesis of spinocerebellar ataxia type 3 controlling the nuclear localization of ataxin-3

(2018) Anna Sergeevna Sowa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2018) Adriana Marcelo et al.   HUMAN MOLECULAR GENETICS

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

Roles of Post-translational Modifications in Spinocerebellar Ataxias

(2018) Linlin Wan et al.   Frontiers in Cellular Neuroscience

Pharmacological enhancement of retinoid-related orphan receptor α function mitigates spinocerebellar ataxia type 3 pathology

(2018) Masashi Watanave et al.   NEUROBIOLOGY OF DISEASE

Contribution of Thyrotropin-Releasing Hormone to Cerebellar Long-Term Depression and Motor Learning

(2018) Masashi Watanave et al.   Frontiers in Cellular Neuroscience

Calpain Inhibition Is Protective in Machado–Joseph Disease Zebrafish Due to Induction of Autophagy

(2017) Maxinne Watchon et al.   JOURNAL OF NEUROSCIENCE

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

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

(2017) Karthyayani Rajamani et al.   NEUROPHARMACOLOGY

The Relationship between Fatty Acids and Different Depression-Related Brain Regions, and Their Potential Role as Biomarkers of Response to Antidepressants

(2017) Maria Fernandes et al.   Nutrients

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

(2017) Adriano M. de Assis et al.   Frontiers in Neurology

Intravenous administration of brain-targeted stable nucleic acid lipid particles alleviates Machado-Joseph disease neurological phenotype

(2016) Mariana Conceição et al.   BIOMATERIALS

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

Autophagic down-regulation in motor neurons remarkably prolongs the survival of ALS mice

(2016) Kuo-Wei Hsueh et al.   NEUROPHARMACOLOGY

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

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

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

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

Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells

(2016) Zhanhui Ou et al.   Biomed Research International

IGF-Binding Proteins in Type-1 Diabetes Are More Severely Altered in the Presence of Complications

(2016) Ashok Sharma et al.   Frontiers in Endocrinology

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

(2016) Isabel Onofre et al.   Scientific Reports

SUMOylation of the brain-predominant Ataxin-3 isoform modulates its interaction with p97

(2015) Bruno Almeida et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2015) Andreia Teixeira-Castro et al.   BRAIN

Olesoxime suppresses calpain activation and mutant huntingtin fragmentation in the BACHD rat

(2015) Laura E. Clemens et al.   BRAIN

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3

(2015) Gerson da Silva Carvalho et al.   CEREBELLUM

Nerve Growth Factor for the Treatment of Spinocerebellar Ataxia Type 3: An Open-label Study

(2015) Yu-Ming Xu et al.   CHINESE MEDICAL JOURNAL

Neuropeptide Y mitigates neuropathology and motor deficits in mouse models of Machado–Joseph disease

(2015) Joana Duarte-Neves et al.   HUMAN MOLECULAR GENETICS

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

(2015) Eppie M. Yiu et al.   JOURNAL OF NEUROLOGY

Pharmacokinetic Profiles of Active Components After Oral Administration of a Kampo Medicine, Shakuyakukanzoto, to Healthy Adult Japanese Volunteers

(2015) Chiharu Sadakane et al.   JOURNAL OF PHARMACEUTICAL SCIENCES

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

(2015) Silvia Romano et al.   LANCET NEUROLOGY

Novel candidate blood-based transcriptional biomarkers of machado-joseph disease

(2015) Mafalda Raposo et al.   MOVEMENT DISORDERS

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

Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice

(2014) Liliana S. Mendonça et al.   BRAIN

A phase II−III trial of olesoxime in subjects with amyotrophic lateral sclerosis

(2014) T. Lenglet et al.   EUROPEAN JOURNAL OF NEUROLOGY

miR-25 alleviates polyQ-mediated cytotoxicity by silencingATXN3

(2014) Fengzhen Huang et al.   FEBS LETTERS

Ubiquitin-specific protease-14 reduces cellular aggregates and protects against mutant huntingtin-induced cell degeneration: involvement of the proteasome and ER stress-activated kinase IRE1 

(2014) A. Hyrskyluoto et al.   HUMAN MOLECULAR GENETICS

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

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

The New Use of an Ancient Remedy: A Double-Blinded Randomized Study on the Treatment of Rheumatoid Arthritis

(2013) Letian Chen et al.   AMERICAN JOURNAL OF CHINESE MEDICINE

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

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

MicroRNA profiling in the serums of SCA3/MJD patients

(2013) Yuting Shi et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Mature Purkinje Cells Require the Retinoic Acid-Related Orphan Receptor-  (ROR ) to Maintain Climbing Fiber Mono-Innervation and Other Adult Characteristics

(2013) X. R. Chen et al.   JOURNAL OF NEUROSCIENCE

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

(2013) Melvin M. Evers et al.   MOLECULAR NEUROBIOLOGY

Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease

(2013) Maria do Carmo Costa et al.   MOLECULAR THERAPY

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

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

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

(2012) B. S. Connolly et al.   NEUROLOGY

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

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

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

(2011) Isabel Nascimento-Ferreira 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

Microscopic analysis of saturated soft clay in Pearl River Delta

(2011) Hui Zhou et al.   JOURNAL OF CENTRAL SOUTH UNIVERSITY OF TECHNOLOGY

Early Changes in Cerebellar Physiology Accompany Motor Dysfunction in the Polyglutamine Disease Spinocerebellar Ataxia Type 3

(2011) V. G. Shakkottai et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Philipp Koch et al.   NATURE

Fighting neurodegeneration with rapamycin: mechanistic insights

(2011) Jordi Bové et al.   NATURE REVIEWS NEUROSCIENCE

Machado-Joseph Disease: from first descriptions to new perspectives

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

CK2 and GSK3 phosphorylation on S29 controls wild-type ATXN3 nuclear uptake

(2010) V. Pastori et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3

(2010) M. P. Zijlstra et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

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

Subcutaneous insulin-like growth factor-1 treatment in spinocerebellar ataxias: An open label clinical trial

(2010) Javier Arpa et al.   MOVEMENT DISORDERS

Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3

(2010) Jonas Alex Morales Saute et al.   MOVEMENT DISORDERS

Enhancement of proteasome activity by a small-molecule inhibitor of USP14

(2010) Byung-Hoon Lee et al.   NATURE

Long-Term IGF-I Exposure Decreases Autophagy and Cell Viability

(2010) Alessandro Bitto et al.   PLoS One

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

Ibuprofen treatment modifies cortical sources of EEG rhythms in mild Alzheimer’s disease

(2009) Claudio Babiloni et al.   CLINICAL NEUROPHYSIOLOGY

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

(2009) Thorsten Mueller et al.   HUMAN MOLECULAR GENETICS

P2X7and P2Y13purinergic receptors mediate intracellular calcium responses to BzATP in rat cerebellar astrocytes

(2009) Luz María G. Carrasquero et al.   JOURNAL OF NEUROCHEMISTRY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

(2009) J. Liu et al.   JOURNAL OF NEUROSCIENCE

Tryptophan 2,3-dioxygenase is a key modulator of physiological neurogenesis and anxiety-related behavior in mice

(2009) Masaaki Kanai et al.   Molecular Brain

Autophagy: A Sweet Process in Diabetes

(2008) Alfred J. Meijer et al.   Cell Metabolism

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

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