Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

(2018) Vincenzo A. Gennarino et al.   CELL

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

Motor neuron degeneration correlates with respiratory dysfunction in SCA1

(2018) James P. Orengo et al.   Disease Models & Mechanisms

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

(2018) Hannah K. Shorrock et al.   DRUGS

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia

(2018) Theresa A. Zesiewicz et al.   NEUROLOGY

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B

(2018) Ronald A.M. Buijsen et al.   Stem Cell Research

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

Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients

(2018) Willeke M.C. van Roon-Mom et al.   Nucleic Acid Therapeutics

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

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

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

(2018) Suran Nethisinghe et al.   Frontiers in Cellular Neuroscience

Comparison of spinocerebellar ataxia type 3 mouse models identifies early gain-of-function, cell-autonomous transcriptional changes in oligodendrocytes

(2017) Biswarathan Ramani et al.   HUMAN MOLECULAR GENETICS

Delivery strategies of the CRISPR-Cas9 gene-editing system for therapeutic applications

(2017) Chang Liu et al.   JOURNAL OF CONTROLLED RELEASE

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

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

(2017) Carlo Rinaldi et al.   Nature Reviews Neurology

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

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

Antisense Oligonucleotides: Translation from Mouse Models to Human Neurodegenerative Diseases

(2017) Kathleen M. Schoch et al.   NEURON

Virus-Mediated Genome Editing via Homology-Directed Repair in Mitotic and Postmitotic Cells in Mammalian Brain

(2017) Jun Nishiyama et al.   NEURON

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

The expanded CAG repeat in the huntingtin gene as target for therapeutic RNA modulation throughout the HD mouse brain

(2017) Nicole A. Datson et al.   PLoS One

RNAi prevents and reverses phenotypes induced by mutant human ataxin-1

(2016) Megan S. Keiser et al.   ANNALS OF NEUROLOGY

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

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

Novel Lactulose and Melibiose Targeting Autophagy to Reduce PolyQ Aggregation in Cell Models of Spinocerebellar Ataxia 3

(2016) Chih-Hsin Lin et al.   CNS & Neurological Disorders-Drug Targets

Morphological and Functional Attenuation of Degeneration of Peripheral Neurons by Mesenchymal Stem Cell-Conditioned Medium in Spinocerebellar Ataxia Type 1-Knock-in Mice

(2016) Nana Suto et al.   CNS Neuroscience & Therapeutics

Caloric restriction and the precision-control of autophagy: A strategy for delaying neurodegenerative disease progression

(2016) C. Ntsapi et al.   EXPERIMENTAL GERONTOLOGY

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

(2016) Jana Schmidt et al.   JOURNAL OF NEUROCHEMISTRY

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

(2016) Fedor A. Platonov et al.   NEUROGENETICS

Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado–Joseph disease

(2016) S. Duarte-Silva et al.   NEUROSCIENCE

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

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

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

(2016) Yu Miyazaki et al.   Science Translational Medicine

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

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

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3

(2016) Lodewijk J. A. Toonen et al.   Scientific Reports

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

(2016) Yoshihito Ishida et al.   Cell Reports

Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells

(2016) Agnieszka Fiszer et al.   Genes

Therapeutic Targeting of Autophagy

(2016) Christina G. Towers et al.   EBioMedicine

Pharmacokinetics, biodistribution and cell uptake of antisense oligonucleotides

(2015) Richard S. Geary et al.   ADVANCED DRUG DELIVERY REVIEWS

Antisense oligonucleotides in therapy for neurodegenerative disorders

(2015) Melvin M. Evers et al.   ADVANCED DRUG DELIVERY REVIEWS

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

(2015) Andreia Teixeira-Castro et al.   BRAIN

Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy

(2015) Megan S. Keiser et al.   BRAIN

A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits

(2015) Israel Aharony et al.   HUMAN MOLECULAR GENETICS

Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction

(2015) S. J. Guyenet 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

Mesenchymal stem cells attenuate peripheral neuronal degeneration in spinocerebellar ataxia type 1 knockin mice

(2015) Tokue Mieda et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos?

(2015) Constanza J. Cortes et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

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

Machado Joseph disease: clinical and genetic aspects, and current treatment

(2015) Jonas Alex Morales Saute et al.   Expert Opinion on Orphan Drugs

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

siRNA Versus miRNA as Therapeutics for Gene Silencing

(2015) Jenny K W Lam et al.   Molecular Therapy-Nucleic Acids

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

(2015) Sofia Esteves et al.   PLoS One

Neuroprotective Effects of Lithium: Implications for the Treatment of Alzheimer’s Disease and Related Neurodegenerative Disorders

(2014) O. V. Forlenza et al.   ACS Chemical Neuroscience

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

(2014) Liliana S. Mendonça et al.   BRAIN

Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity

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

Polyglutamine (PolyQ) Diseases: Genetics to Treatments

(2014) Hueng-Chuen Fan et al.   CELL TRANSPLANTATION

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

(2014) Sara Duarte-Silva et al.   CEREBELLUM

Mesenchymal Stem Cells as a Potential Therapeutic Tool for Spinocerebellar Ataxia

(2014) Kazuhiro Nakamura et al.   CEREBELLUM

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

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

An updated patent review of calpain inhibitors (2012 – 2014)

(2014) Isaac O Donkor   EXPERT OPINION ON THERAPEUTIC PATENTS

Human-induced pluripotent stem cells: potential for neurodegenerative diseases

(2014) C. A. Ross et al.   HUMAN MOLECULAR GENETICS

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

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 randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2

(2014) Francesco Saccà et al.   JOURNAL OF NEUROLOGY

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

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

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

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

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

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

Transplantation of Induced Pluripotent Stem Cells Improves Functional Recovery in Huntington's Disease Rat Model

(2014) Shuhua Mu 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

Intrastriatal Transplantation of Adenovirus-Generated Induced Pluripotent Stem Cells for Treating Neuropathological and Functional Deficits in a Rodent Model of Huntington's Disease

(2014) Kyle D. Fink et al.   Stem Cells Translational Medicine

Lipid Nanoparticles as Carriers for RNAi against Viral Infections: Current Status and Future Perspectives

(2014) Josune Torrecilla 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

Second Cistron in CACNA1A Gene Encodes a Transcription Factor Mediating Cerebellar Development and SCA6

(2013) Xiaofei Du et al.   CELL

Lithium Chloride Alleviates Neurodegeneration Partly by Inhibiting Activity of GSK3β in a SCA3 Drosophila Model

(2013) Dan-Dan Jia et al.   CEREBELLUM

Mesenchymal Stem Cells Ameliorate Cerebellar Pathology in a Mouse Model of Spinocerebellar Ataxia Type 1

(2013) Serina Matsuura et al.   CEREBELLUM

Consensus Paper: Management of Degenerative Cerebellar Disorders

(2013) W. Ilg et al.   CEREBELLUM

Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy in Hereditary Spinocerebellar Ataxia

(2013) Jia-Li Jin et al.   CURRENT NEUROVASCULAR RESEARCH

Clinical analysis of the treatment of spinal cord injury with umbilical cord mesenchymal stem cells

(2013) Jing Liu et al.   CYTOTHERAPY

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

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

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

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

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

(2013) Jing Liu et al.   NUCLEIC ACIDS RESEARCH

Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS

(2013) Michael E. Østergaard et al.   NUCLEIC ACIDS RESEARCH

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

(2013) Clévio Nóbrega 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

Pharmacometabolomic Signature of Ataxia SCA1 Mouse Model and Lithium Effects

(2013) Bertrand Perroud 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

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Hereditary Ataxia and Spastic Paraplegia in Portugal

(2013) Paula Coutinho et al.   JAMA Neurology

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

Developmentally coordinated extrinsic signals drive human pluripotent stem cell differentiation toward authentic DARPP-32+ medium-sized spiny neurons

(2012) A. D. Carri et al.   DEVELOPMENT

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

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

Generation of Human-Induced Pluripotent Stem Cells to Model Spinocerebellar Ataxia Type 2 In vitro

(2012) Guangbin Xia et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

The microRNA miR-34 modulates ageing and neurodegeneration in Drosophila

(2012) Nan Liu et al.   NATURE

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

(2012) Holly B. Kordasiewicz et al.   NEURON

Ataxin-2-Like Is a Regulator of Stress Granules and Processing Bodies

(2012) Christian Kaehler et al.   PLoS One

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

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Generation of Induced Pluripotent Stem Cells from Skin Fibroblasts of a Patient with Olivopontocerebellar Atrophy

(2012) Yumei Luo et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Autologous Mesenchymal Stem Cell Therapy in Progressive Multiple Sclerosis: An Open Label Study

(2012) Mandana Mohyeddin Bonab et al.   Current Stem Cell Research & Therapy

Lack of miRNA Misregulation at Early Pathological Stages in Drosophila Neurodegenerative Disease Models

(2012) Anita Reinhardt et al.   Frontiers in Genetics

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

The Beclin 1 network regulates autophagy and apoptosis

(2011) R Kang et al.   CELL DEATH AND DIFFERENTIATION

Cerebellar Cognitive Affective Syndrome in Machado Joseph Disease: Core Clinical Features

(2011) Pedro Braga-Neto et al.   CEREBELLUM

Clinical analysis of the treatment of spinocerebellar ataxia and multiple system atrophy-cerebellar type with umbilical cord mesenchymal stromal cells

(2011) Han Dongmei et al.   CYTOTHERAPY

ATXN1 Protein Family and CIC Regulate Extracellular Matrix Remodeling and Lung Alveolarization

(2011) Yoontae Lee et al.   DEVELOPMENTAL CELL

Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway

(2011) Xin Tong et al.   EMBO REPORTS

Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network

(2011) Yoko Nakamura et al.   HUMAN MOLECULAR GENETICS

Genetically Engineered Mesenchymal Stem Cells as a Proposed Therapeutic for Huntington’s Disease

(2011) Scott D. Olson et al.   MOLECULAR NEUROBIOLOGY

Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene / Allele-Specific Silencing of Mutant Huntingtin

(2011) Jeffrey B Carroll et al.   MOLECULAR THERAPY

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

(2011) Philipp Koch et al.   NATURE

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

(2011) H. Jacobi et al.   NEUROLOGY

Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide

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

The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation

(2011) C. McCann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Toward understanding Machado–Joseph disease

(2011) Maria do Carmo Costa et al.   PROGRESS IN NEUROBIOLOGY

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

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

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

(2010) Jorge Sequeiros et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of Function ofATXN1Increases Amyloid β-Protein Levels by Potentiating β-Secretase Processing of β-Amyloid Precursor Protein

(2010) Can Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Genome-wide analysis of miRNA expression reveals a potential role for miR-144 in brain aging and spinocerebellar ataxia pathogenesis

(2010) Stephan Persengiev et al.   NEUROBIOLOGY OF AGING

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

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

(2010) G. Ristori et al.   NEUROLOGY

PolyQ Disease: Too Many Qs, Too Much Function?

(2010) Ian H. Kratter et al.   NEURON

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

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

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

(2010) Juan Crespo-Barreto et al.   PLoS Genetics

siRNA vs. shRNA: Similarities and differences

(2009) Donald D. Rao et al.   ADVANCED DRUG DELIVERY REVIEWS

Autophagy induction by trehalose counter-acts cellular prion-infection

(2009) Yasmine Aguib et al.   Autophagy

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

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

(2009) J. Vale et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2009) Joonil Jung et al.   HUMAN MOLECULAR GENETICS

The Spinocerebellar Ataxias

(2009) Henry L Paulson   JOURNAL OF NEURO-OPHTHALMOLOGY

Oligonucleotide-Mediated Survival of Motor Neuron Protein Expression in CNS Improves Phenotype in a Mouse Model of Spinal Muscular Atrophy

(2009) J. H. Williams et al.   JOURNAL OF NEUROSCIENCE

Grafting Neural Precursor Cells Promotes Functional Recovery in an SCA1 Mouse Model

(2009) S. Chintawar et al.   JOURNAL OF NEUROSCIENCE

A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Study of Intravenous Adult Human Mesenchymal Stem Cells (Prochymal) After Acute Myocardial Infarction

(2009) Joshua M. Hare et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs

(2009) Jiaxin Hu et al.   NATURE BIOTECHNOLOGY

Calcium signaling and neurodegenerative diseases

(2009) Ilya Bezprozvanny   TRENDS IN MOLECULAR MEDICINE

Nuclear accumulation of polyglutamine disease proteins and neuropathology

(2009) Lauren S Havel et al.   Molecular Brain

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM

Magnetic resonance imaging in spinocerebellar ataxias

(2008) Susanne Döhlinger et al.   CEREBELLUM

Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4)

(2008) Giovanni Stevanin et al.   CEREBELLUM

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

(2008) Antoni Matilla-Dueñas et al.   CEREBELLUM

A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)

(2008) C. Kieling et al.   EUROPEAN JOURNAL OF NEUROLOGY

Most mammalian mRNAs are conserved targets of microRNAs

(2008) R. C. Friedman et al.   GENOME RESEARCH

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

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

miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis

(2008) Yoontae Lee et al.   NATURE NEUROSCIENCE

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

Migration of Neurotrophic Factors-Secreting Mesenchymal Stem Cells Toward a Quinolinic Acid Lesion as Viewed by Magnetic Resonance Imaging

(2008) Ofer Sadan et al.   STEM CELLS

The antidepressant sertraline improves the phenotype, promotes neurogenesis and increases BDNF levels in the R6/2 Huntington's disease mouse model

(2007) Qi Peng et al.   EXPERIMENTAL NEUROLOGY