Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature

(2020) Ahmet Cevdet Ceylan et al.   ACTA NEUROLOGICA BELGICA

Trehalose alleviates the phenotype of Machado–Joseph disease mouse models

(2020) Magda M. Santana et al.   Journal of Translational Medicine

Investigating ARSACS: models for understanding cerebellar degeneration

(2019) Ana Artero Castro et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

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

The current state and future directions of RNAi-based therapeutics

(2019) Ryan L. Setten et al.   NATURE REVIEWS DRUG DISCOVERY

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

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

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

Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression

(2019) Anna Kotowska-Zimmer et al.   Molecular Therapy-Nucleic Acids

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice

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

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

(2018) Carlos Matos et al.   JOURNAL OF NEUROCHEMISTRY

Polyglutamine expansion diseases: More than simple repeats

(2018) Alexandra Silva et al.   JOURNAL OF STRUCTURAL BIOLOGY

Repeated Mesenchymal Stromal Cells Treatment Sustainably Alleviates Machado-Joseph Disease

(2018) Catarina Oliveira Miranda et al.   MOLECULAR THERAPY

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

Gene Editing on Center Stage

(2018) Rasmus O. Bak et al.   TRENDS IN GENETICS

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

(2018) Adriana Marcelo et al.   HUMAN MOLECULAR GENETICS

Spinocerebellar ataxias: prospects and challenges for therapy development

(2018) Tetsuo Ashizawa et al.   Nature Reviews Neurology

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

(2018) Li Zeng et al.   PLoS One

Spinocerebellar ataxia: an update

(2018) Roisin Sullivan et al.   JOURNAL OF NEUROLOGY

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

(2018) David Genis et al.   NEUROLOGY

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

(2018) Chenchen Niu et al.   Science Translational Medicine

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

(2017) Vitor Carmona et al.   MOLECULAR THERAPY

CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo

(2017) Alex Mas Monteys et al.   MOLECULAR THERAPY

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

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

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

(2017) Jun Nishiyama et al.   NEURON

DNAJ Proteins in neurodegeneration: essential and protective factors

(2017) Christina Zarouchlioti et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

RNA Interference (RNAi)-Based Therapeutics: Delivering on the Promise?

(2016) Maggie L. Bobbin et al.   Annual Review of Pharmacology and Toxicology

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

(2016) Mariana Conceição et al.   BIOMATERIALS

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9

(2016) Jun Wan Shin et al.   HUMAN MOLECULAR GENETICS

Genome-editing Technologies for Gene and Cell Therapy

(2016) Morgan L Maeder et al.   MOLECULAR THERAPY

Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology

(2016) Céline Ruegsegger et al.   NEURON

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

(2016) Yu Miyazaki et al.   Science Translational Medicine

Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells

(2016) Agnieszka Fiszer et al.   Genes

Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado–Joseph disease

(2015) Clévio Nóbrega 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

Transplantation and Stem Cell Therapy for Cerebellar Degenerations

(2015) Jan Cendelin   CEREBELLUM

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

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

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

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

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

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

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

(2014) Liliana S. Mendonça et al.   BRAIN

Development and Applications of CRISPR-Cas9 for Genome Engineering

(2014) Patrick D. Hsu et al.   CELL

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

Potential therapeutic targets in polyglutamine-mediated diseases

(2014) Masahisa Katsuno et al.   Expert Review of Neurotherapeutics

miR-25 alleviates polyQ-mediated cytotoxicity by silencingATXN3

(2014) Fengzhen Huang et al.   FEBS LETTERS

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

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

Role of High Mobility Group Box 1 (HMGB1) in SCA17 Pathogenesis

(2014) Li-Ching Lee et al.   PLoS One

The new frontier of genome engineering with CRISPR-Cas9

(2014) J. A. Doudna et al.   SCIENCE

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

(2013) Isabel Nascimento-Ferreira et al.   BRAIN

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

(2013) A. Matilla-Dueñas et al.   CEREBELLUM

Gene therapy on the move

(2013) Kerstin B. Kaufmann et al.   EMBO Molecular Medicine

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

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

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

(2013) Clévio Nóbrega et al.   PLoS One

Hereditary Ataxia and Spastic Paraplegia in Portugal

(2013) Paula Coutinho et al.   JAMA Neurology

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

CAG expansion induces nucleolar stress in polyglutamine diseases

(2012) H. Tsoi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Isabel Nascimento-Ferreira et al.   BRAIN

CAG repeats mimic CUG repeats in the misregulation of alternative splicing

(2011) Agnieszka Mykowska et al.   NUCLEIC ACIDS RESEARCH

Long Tract of Untranslated CAG Repeats Is Deleterious in Transgenic Mice

(2011) Ren-Jun Hsu et al.   PLoS One

Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide

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

Autophagy and polyglutamine diseases

(2011) Maria Jimenez-Sanchez et al.   PROGRESS IN NEUROBIOLOGY

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

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

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

(2010) Sandro Alves et al.   HUMAN MOLECULAR GENETICS

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

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

Regulation of Mammalian Autophagy in Physiology and Pathophysiology

(2010) Brinda Ravikumar et al.   PHYSIOLOGICAL REVIEWS

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

(2009) A. K. Erichsen et al.   BRAIN

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

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

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

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

Breaking the Code of DNA Binding Specificity of TAL-Type III Effectors

(2009) J. Boch et al.   SCIENCE

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM

Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia

(2008) Takashi Torashima et al.   EMBO REPORTS

Artificial MicroRNAs as siRNA Shuttles: Improved Safety as Compared to shRNAs In vitro and In vivo

(2008) Ryan L Boudreau et al.   MOLECULAR THERAPY

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

(2008) Ling-Bo Li et al.   NATURE

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

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7

(2008) J. R. Gatchel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA