Polyglutamine spinocerebellar ataxias: emerging therapeutic targets

Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells

(2020) Jonathan Henry Wardman et al.   CEREBELLUM

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

i-Silence, Please! An Alternative for Gene Disruption via Adenine Base Editors

(2020) Hyeon-Ki Jang et al.   MOLECULAR THERAPY

Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation

(2020) Eiko N Minakawa et al.   BRAIN

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

(2020) Yu-Shuan Chen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Deficiency in classical nonhomologous end-joining–mediated repair of transcribed genes is linked to SCA3 pathogenesis

(2020) Anirban Chakraborty et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Emerging New Concepts of Degrader Technologies

(2020) Yu Ding et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Differential effects of thyrotropin releasing hormone (TRH) on motor execution and motor adaptation process in patients with spinocerebellar degeneration

(2020) Takahiro Shimizu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion

(2020) Anna Niewiadomska-Cimicka et al.   Frontiers in Neuroscience

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

Self-assembling vascular endothelial growth factor nanoparticles improve function in spinocerebellar ataxia type 1

(2019) Yuan-Shih Hu et al.   BRAIN

Role of Microglia in Ataxias

(2019) Austin Ferro et al.   JOURNAL OF MOLECULAR BIOLOGY

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

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

Brain Derived Neurotrophic Factor (BDNF) Delays Onset of Pathogenesis in Transgenic Mouse Model of Spinocerebellar Ataxia Type 1 (SCA1)

(2019) Aaron Mellesmoen et al.   Frontiers in Cellular Neuroscience

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

(2019) Jacqueline M. Ward et al.   Cell Reports

Non-viral Delivery of Zinc Finger Nuclease mRNA Enables Highly Efficient In Vivo Genome Editing of Multiple Therapeutic Gene Targets

(2019) Anthony Conway et al.   MOLECULAR THERAPY

Oxidative Stress in Neurodegenerative Diseases: From a Mitochondrial Point of View

(2019) Giovanna Cenini et al.   Oxidative Medicine and Cellular Longevity

Protective roles of carbonic anhydrase 8 in Machado–Joseph Disease

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

DNA Damage Repair in Huntington’s Disease and Other Neurodegenerative Diseases

(2019) T. Maiuri et al.   Neurotherapeutics

The Emerging Role of microRNAs in Polyglutamine Diseases

(2019) Xiaoyu Dong et al.   Frontiers in Molecular Neuroscience

Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2

(2019) Polina A. Egorova et al.   Neurotherapeutics

Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide

(2019) Eleni Kourkouta et al.   Molecular Therapy-Nucleic Acids

Degradation of proteins by PROTACs and other strategies

(2019) Yang Wang et al.   Acta Pharmaceutica Sinica B

Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders

(2019) Ana C Silva et al.   BRAIN

Allele-selective lowering of mutant HTT protein by HTT–LC3 linker compounds

(2019) Zhaoyang Li et al.   NATURE

Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein

(2019) Naila S. Ashraf et al.   NEUROBIOLOGY OF DISEASE

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

(2019) Jorge Diogo Da Silva et al.   Neurotherapeutics

The effects of statins on microglial cells to protect against neurodegenerative disorders: A mechanistic review

(2019) Hossein Bagheri et al.   BIOFACTORS

Application of protein knockdown strategy targeting β-sheet structure to multiple disease-associated polyglutamine proteins

(2019) Hiroko Yamashita et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Pathogenesis of SCA3 and implications for other polyglutamine diseases

(2019) Hayley S. McLoughlin et al.   NEUROBIOLOGY OF DISEASE

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice

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

Ca 2+ signaling and spinocerebellar ataxia

(2018) Chihiro Hisatsune et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

(2018) Etsuko Shimobayashi et al.   Current Neuropharmacology

Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders

(2018) Polina A. Egorova et al.   FEBS Journal

Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway

(2018) Yu-Ling Wu et al.   FREE RADICAL BIOLOGY AND MEDICINE

Comparison of Zinc Finger Nucleases Versus CRISPR-Specific Nucleases for Genome Editing of the Wiskott-Aldrich Syndrome Locus

(2018) Alejandra Gutierrez-Guerrero et al.   HUMAN GENE THERAPY

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

(2018) Carlos Matos et al.   JOURNAL OF NEUROCHEMISTRY

Piperine ameliorates SCA17 neuropathology by reducing ER stress

(2018) Jifeng Guo 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

Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model

(2018) Judit M. Pérez Ortiz et al.   NEUROBIOLOGY OF DISEASE

TFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities

(2018) Constanza J. Cortes et al.   NEUROBIOLOGY OF DISEASE

DNA damage response

(2018) Elizabeth A. Coon et al.   NEUROLOGY

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism

(2018) Maxime W.C. Rousseaux et al.   NEURON

The indole compound NC009-1 inhibits aggregation and promotes neurite outgrowth through enhancement of HSPB1 in SCA17 cells and ameliorates the behavioral deficits in SCA17 mice

(2018) Chiung-Mei Chen et al.   NEUROTOXICOLOGY

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

An Intracellular Allosteric Modulator Binding Pocket in SK2 Ion Channels Is Shared by Multiple Chemotypes

(2018) Lily T.-Y. Cho et al.   STRUCTURE

Mechanism of neuroprotection by trehalose: controversy surrounding autophagy induction

(2018) He-Jin Lee et al.   Cell Death & Disease

Efficient generation of mouse models of human diseases via ABE- and BE-mediated base editing

(2018) Zhen Liu et al.   Nature Communications

Transcriptional Dysregulation and Post-translational Modifications in Polyglutamine Diseases: From Pathogenesis to Potential Therapeutic Strategies

(2018) Chunchen Xiang et al.   Frontiers in Molecular Neuroscience

Targeting potassium channels to treat cerebellar ataxia

(2018) David D. Bushart et al.   Annals of Clinical and Translational Neurology

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

(2018) Adriana Marcelo et al.   HUMAN MOLECULAR GENETICS

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

(2018) Michela Ripolone et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

Spinocerebellar ataxias: prospects and challenges for therapy development

(2018) Tetsuo Ashizawa et al.   Nature Reviews Neurology

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

Nuclear poly(ADP-ribose) activity is a therapeutic target in amyotrophic lateral sclerosis

(2018) L. McGurk et al.   Acta Neuropathologica Communications

Therapeutic Oligonucleotides: State of the Art

(2018) C.I. Edvard Smith et al.   Annual Review of Pharmacology and Toxicology

Simultaneous zygotic inactivation of multiple genes in mouse through CRISPR/Cas9-mediated base editing

(2018) He Zhang et al.   DEVELOPMENT

Spinocerebellar ataxia: an update

(2018) Roisin Sullivan et al.   JOURNAL OF NEUROLOGY

Coiled-coil structure-dependent interactions between polyQ proteins and Foxo lead to dendrite pathology and behavioral defects

(2018) Min Jee Kwon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Methacycline displays a strong efficacy in reducing toxicity in a SCA3 Caenorhabditis elegans model

(2018) Loredana Amigoni et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Epigallocatechin-3-gallate and related phenol compounds redirect the amyloidogenic aggregation pathway of ataxin-3 towards non-toxic aggregates and prevent toxicity in neural cells and Caenorhabditis elegans animal model

(2017) Cristina Visentin et al.   HUMAN MOLECULAR GENETICS

The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia

(2017) Woo-Jin Lee et al.   JOURNAL OF NEUROIMMUNOLOGY

Inhibition of colony-stimulating factor 1 receptor early in disease ameliorates motor deficits in SCA1 mice

(2017) Wenhui Qu et al.   Journal of Neuroinflammation

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

(2017) Maxinne Watchon et al.   JOURNAL OF NEUROSCIENCE

Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17

(2017) Yang Yang et al.   JOURNAL OF NEUROSCIENCE

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

(2017) Nanna Cornelius et al.   MITOCHONDRION

The Anti-CRISPR Story: A Battle for Survival

(2017) Karen L. Maxwell   MOLECULAR CELL

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

(2017) Vitor Carmona et al.   MOLECULAR THERAPY

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Polyglutamine tracts regulate beclin 1-dependent autophagy

(2017) Avraham Ashkenazi et al.   NATURE

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

(2017) Nicole M. Gaudelli et al.   NATURE

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

(2017) Henry L. Paulson et al.   NATURE REVIEWS NEUROSCIENCE

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

(2017) Karthyayani Rajamani et al.   NEUROPHARMACOLOGY

Oxidative Stress in Neurodegenerative Diseases: From Molecular Mechanisms to Clinical Applications

(2017) Zewen Liu et al.   Oxidative Medicine and Cellular Longevity

The heat-shock, or HSF1-mediated proteotoxic stress, response in cancer: from proteomic stability to oncogenesis

(2017) Chengkai Dai   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Gene suppression approaches to neurodegeneration

(2017) Rhia Ghosh et al.   Alzheimers Research & Therapy

The Truncated C-terminal Fragment of Mutant ATXN3 Disrupts Mitochondria Dynamics in Spinocerebellar Ataxia Type 3 Models

(2017) Jung-Yu Hsu et al.   Frontiers in Molecular Neuroscience

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

(2017) Lodewijk J.A. Toonen et al.   Molecular Therapy-Nucleic Acids

Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models

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

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

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

Chronic Caffeine Consumption Prevents Memory Disturbance in Different Animal Models of Memory Decline

(2017) Rodrigo A. Cunha et al.   JOURNAL OF ALZHEIMERS DISEASE

Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model

(2017) Austin Ferro et al.   PLoS One

TANGO-Inspired Design of Anti-Amyloid Cyclic Peptides

(2016) Xiaomeng Lu et al.   ACS Chemical Neuroscience

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

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

(2016) Mariana Conceição et al.   BIOMATERIALS

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

(2016) Maria do Carmo Costa et al.   BRAIN

Targeting the prodromal stage of spinocerebellar ataxia type 17 mice: G-CSF in the prevention of motor deficits via upregulating chaperone and autophagy levels

(2016) Ya-Chin Chang et al.   BRAIN RESEARCH

Mitochondrial impairments contribute to Spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ

(2016) David M. Stucki et al.   FREE RADICAL BIOLOGY AND MEDICINE

RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair

(2016) Juliana Bosso Taniguchi et al.   HUMAN MOLECULAR GENETICS

Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1)

(2016) Ivelisse Sánchez et al.   HUMAN MOLECULAR GENETICS

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

In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model

(2016) Polina A. Egorova et al.   JOURNAL OF NEUROPHYSIOLOGY

Prolonged Type 1 Metabotropic Glutamate Receptor Dependent Synaptic Signaling Contributes to Spino-Cerebellar Ataxia Type 1

(2016) Emmet M. Power et al.   JOURNAL OF NEUROSCIENCE

Cellular and circuit mechanisms underlying spinocerebellar ataxias

(2016) Pratap Meera et al.   JOURNAL OF PHYSIOLOGY-LONDON

Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts

(2016) Sofia Esteves et al.   MEDICINAL RESEARCH REVIEWS

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

(2016) Nicolas C. Hoch et al.   NATURE

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

BIIB021, a synthetic Hsp90 inhibitor, induces mutant ataxin-1 degradation through the activation of heat shock factor 1

(2016) Ying Ding et al.   NEUROSCIENCE

An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron

(2016) Yu Miyazaki et al.   Science Translational Medicine

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

(2016) Adele G. Marthaler et al.   Stem Cell Research

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

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

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

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

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

How Epigallocatechin-3-gallate and Tetracycline Interact with the Josephin Domain of Ataxin-3 and Alter Its Aggregation Mode

(2015) Marcella Bonanomi et al.   CHEMISTRY-A EUROPEAN JOURNAL

Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia

(2015) Megan S. Keiser et al.   HUMAN MOLECULAR GENETICS

Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex

(2015) Hui Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability

(2015) J. M. Dell'Orco et al.   JOURNAL OF NEUROSCIENCE

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

(2015) Silvia Romano et al.   LANCET NEUROLOGY

PARP-1 involvement in neurodegeneration: A focus on Alzheimer’s and Parkinson’s diseases

(2015) Sara Martire et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Trehalose Attenuates the Gait Ataxia and Gliosis of Spinocerebellar Ataxia Type 17 Mice

(2015) Zhi-Zhong Chen et al.   NEUROCHEMICAL RESEARCH

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

Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1

(2015) M. Cvetanovic et al.   NEUROSCIENCE

Toward therapeutic targets for SCA3: Insight into the role of Machado–Joseph disease protein ataxin-3 in misfolded proteins clearance

(2015) Xiaoling Li et al.   PROGRESS IN NEUROBIOLOGY

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

Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity

(2014) F M Menzies et al.   CELL DEATH AND DIFFERENTIATION

Knockdown of Acid-Sensing Ion Channel 1a (ASIC1a) Suppresses Disease Phenotype in SCA1 Mouse Model

(2014) Parminder J. S. Vig et al.   CEREBELLUM

HMGB1 facilitates repair of mitochondrial DNA damage and extends the lifespan of mutant ataxin-1 knock-in mice

(2014) H. Ito et al.   EMBO Molecular Medicine

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts

(2014) Janine Scholefield et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Aqueous extract of Glycyrrhiza inflata inhibits aggregation by upregulating PPARGC1A and NFE2L2–ARE pathways in cell models of spinocerebellar ataxia 3

(2014) Chiung-Mei Chen et al.   FREE RADICAL BIOLOGY AND MEDICINE

Calpain inhibition reduces ataxin-3 cleavage alleviating neuropathology and motor impairments in mouse models of Machado–Joseph disease

(2014) Ana Teresa Simões et al.   HUMAN MOLECULAR GENETICS

Epigallocatechin-3-gallate and tetracycline differently affect ataxin-3 fibrillogenesis and reduce toxicity in spinocerebellar ataxia type 3 model

(2014) Marcella Bonanomi et al.   HUMAN MOLECULAR GENETICS

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

(2014) Francesca Maltecca et al.   JOURNAL OF CLINICAL INVESTIGATION

Sulforaphane enhances proteasomal and autophagic activities in mice and is a potential therapeutic reagent for Huntington's disease

(2014) Yanying Liu et al.   JOURNAL OF NEUROCHEMISTRY

The design and delivery of a PKA inhibitory polypeptide to treat SCA1

(2014) Scoty M. Hearst et al.   JOURNAL OF NEUROCHEMISTRY

Drug-Like ProteinProtein Interaction Modulators: Challenges and Opportunities for Drug Discovery and Chemical Biology

(2014) Bruno O. Villoutreix et al.   Molecular Informatics

Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy

(2014) Megan S Keiser et al.   MOLECULAR THERAPY

Nonallele Specific Silencing of Ataxin-7 Improves Disease Phenotypes in a Mouse Model of SCA7

(2014) Pavitra S Ramachandran et al.   MOLECULAR THERAPY

Coenzyme Q10 and spinocerebellar ataxias

(2014) Raymond Y. Lo et al.   MOVEMENT DISORDERS

Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7

(2014) Jennifer Y Tan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

RNA Interference-Based Therapy for Spinocerebellar Ataxia Type 7 Retinal Degeneration

(2014) Pavitra S. Ramachandran et al.   PLoS One

RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease

(2014) Clévio Nóbrega et al.   PLoS One

Targeting ATM ameliorates mutant Huntingtin toxicity in cell and animal models of Huntington's disease

(2014) X.-H. Lu et al.   Science Translational Medicine

Proteostasis impairment in protein-misfolding and -aggregation diseases

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

From Pathways to Targets: Understanding the Mechanisms behind Polyglutamine Disease

(2014) Jonasz Jeremiasz Weber et al.   Biomed Research International

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

Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice

(2013) Alice Chort et al.   BRAIN

Potent and multiple regulatory actions of microglial glucocorticoid receptors during CNS inflammation

(2013) M Á Carrillo-de Sauvage et al.   CELL DEATH AND DIFFERENTIATION

Protein–protein interactions as druggable targets: recent technological advances

(2013) Alicia P Higueruelo et al.   CURRENT OPINION IN PHARMACOLOGY

Protein Homeostasis as a Therapeutic Target for Diseases of Protein Conformation

(2013) Barbara Calamini et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Ubiquitination Regulates the Neuroprotective Function of the Deubiquitinase Ataxin-3in Vivo

(2013) Wei-Ling Tsou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model

(2013) Carlotta E Duncan et al.   Molecular Neurodegeneration

Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease

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

Silencing Mutant ATXN3 Expression Resolves Molecular Phenotypes in SCA3 Transgenic Mice

(2013) Edgardo Rodríguez-Lebrón et al.   MOLECULAR THERAPY

RNAi or overexpression: Alternative therapies for Spinocerebellar Ataxia Type 1

(2013) Megan S. Keiser et al.   NEUROBIOLOGY OF DISEASE

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

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

(2013) Clévio Nóbrega 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

Selective Positive Modulator of Calcium-Activated Potassium Channels Exerts Beneficial Effects in a Mouse Model of Spinocerebellar Ataxia Type 2

(2012) Adebimpe W. Kasumu et al.   CHEMISTRY & BIOLOGY

Chronic Suppression of Inositol 1,4,5-Triphosphate Receptor-Mediated Calcium Signaling in Cerebellar Purkinje Cells Alleviates Pathological Phenotype in Spinocerebellar Ataxia 2 Mice

(2012) A. W. Kasumu et al.   JOURNAL OF NEUROSCIENCE

Cerebellar Ataxia by Enhanced CaV2.1 Currents Is Alleviated by Ca2+-Dependent K+-Channel Activators in Cacna1aS218L Mutant Mice

(2012) Z. Gao et al.   JOURNAL OF NEUROSCIENCE

Mouse Models of Polyglutamine Diseases: Review and Data Table. Part I

(2012) Maciej Figiel et al.   MOLECULAR NEUROBIOLOGY

Mouse Models of Polyglutamine Diseases in Therapeutic Approaches: Review and Data Table. Part II

(2012) Pawel M. Switonski et al.   MOLECULAR NEUROBIOLOGY

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

Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7

(2012) Satsuki Noma et al.   NEUROSCIENCE RESEARCH

Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes

(2012) S. D. McCullough et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Small Molecule Activators of Cryptochrome

(2012) T. Hirota et al.   SCIENCE

Structural biology and drug discovery for protein–protein interactions

(2012) Harry Jubb et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Compromised mitochondrial complex II in models of Machado–Joseph disease

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

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

(2011) Isabel Nascimento-Ferreira et al.   BRAIN

Glial S100B Protein Modulates Mutant Ataxin-1 Aggregation and Toxicity: TRTK12 Peptide, a Potential Candidate for SCA1 Therapy

(2011) Parminder J. S. Vig et al.   CEREBELLUM

Expanded Polyglutamine-Binding Peptoid as a Novel Therapeutic Agent for Treatment of Huntington's Disease

(2011) Xuesong Chen et al.   CHEMISTRY & BIOLOGY

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

Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila

(2011) Leeanne McGurk et al.   HUMAN MOLECULAR GENETICS

Aminopyridines Correct Early Dysfunction and Delay Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1

(2011) R. Hourez et al.   JOURNAL OF NEUROSCIENCE

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

Riluzole elevates GLT-1 activity and levels in striatal astrocytes

(2011) Marica Carbone et al.   NEUROCHEMISTRY INTERNATIONAL

Co-Chaperone HSJ1a Dually Regulates the Proteasomal Degradation of Ataxin-3

(2011) Xue-Chao Gao et al.   PLoS One

The Nrf2-ARE Pathway

(2010) Jeffrey A. Johnson et al.   Annals of the New York Academy of Sciences

Geniposide Induces the Expression of Heme Oxygenase-1 via PI3K/Nrf2-Signaling to Enhance the Antioxidant Capacity in Primary Hippocampal Neurons

(2010) Fei Yin et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

A genetic dissection of breed composition and performance enhancement in the Alaskan sled dog

(2010) Heather J Huson et al.   BMC GENETICS

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias

(2010) Adebimpe Kasumu et al.   CEREBELLUM

KCa Channels as Therapeutic Targets in Episodic Ataxia Type-2

(2010) K. Alvina et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Byung-Hoon Lee et al.   NATURE

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

Human cytomegalovirus UL97 kinase prevents the deposition of mutant protein aggregates in cellular models of Huntington's disease and Ataxia

(2010) Cristy Tower et al.   NEUROBIOLOGY OF DISEASE

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

(2010) G. Ristori et al.   NEUROLOGY

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

Bergmann Glial S100B Activates Myo-inositol Monophosphatase 1 and Co-localizes to Purkinje Cell Vacuoles in SCA1 Transgenic Mice

(2009) Parminder J. S. Vig et al.   CEREBELLUM

Purine-Scaffold Hsp90 Inhibitors

(2009) Tony Taldone et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

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

Phosphorylation of ATXN1 at Ser776 in the cerebellum

(2009) Nathan D. Jorgensen et al.   JOURNAL OF NEUROCHEMISTRY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

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

Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

(2009) Katsuya Nakamura et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

BIIB021, an orally available, fully synthetic small-molecule inhibitor of the heat shock protein Hsp90

(2009) K. Lundgren et al.   MOLECULAR CANCER THERAPEUTICS

Effectiveness and safety of treatments for degenerative ataxias: A systematic review

(2009) M.Mar Trujillo-Martín et al.   MOVEMENT DISORDERS

Design of RNAi Hairpins for Mutation-Specific Silencing of Ataxin-7 and Correction of a SCA7 Phenotype

(2009) Janine Scholefield et al.   PLoS One

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

Blocking acid-sensing ion channel 1 alleviates Huntington's disease pathology via an ubiquitin-proteasome system-dependent mechanism

(2008) Hon Kit Wong et al.   HUMAN MOLECULAR GENETICS

Heat Shock Transcription Factor 1-activating Compounds Suppress Polyglutamine-induced Neurodegeneration through Induction of Multiple Molecular Chaperones

(2008) Nobuhiro Fujikake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

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

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

Polyglutamine Expansion Accelerates the Dynamics of Ataxin-1 and Does Not Result in Aggregate Formation

(2008) Hilde A. Krol et al.   PLoS One

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