Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
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Title
Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
Authors
Keywords
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Journal
Biomedicines
Volume 9, Issue 11, Pages 1499
Publisher
MDPI AG
Online
2021-10-20
DOI
10.3390/biomedicines9111499
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Note: Only part of the references are listed.- From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing
- (2021) Elisabetta Indelicato et al. Frontiers in Neurology
- Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias
- (2021) Ricardo Afonso-Reis et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- SCA7 mouse cerebellar pathology reveals preferential downregulation of key Purkinje cell-identity genes and shared disease signature with SCA1 and SCA2.
- (2021) Anna Niewiadomska-Cimicka et al. JOURNAL OF NEUROSCIENCE
- Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3
- (2021) Jennifer Faber et al. MOVEMENT DISORDERS
- Failure of genetic therapies for Huntington’s devastates community
- (2021) Diana Kwon NATURE
- Antisense technology: an overview and prospectus
- (2021) Stanley T. Crooke et al. NATURE REVIEWS DRUG DISCOVERY
- The Evolution of Antisense Oligonucleotide Chemistry—A Personal Journey
- (2021) Sudhir Agrawal Biomedicines
- Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients
- (2020) Luis Velázquez-Pérez et al. CEREBELLUM
- Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean
- (2020) Roberto Rodríguez-Labrada et al. CEREBELLUM
- Interferon mediated neuroinflammation in polyglutamine disease is not caused by RNA toxicity
- (2020) Aksheev Bhambri et al. Cell Death & Disease
- Neuroimaging Spectrum at Pre-, Early, and Late Symptomatic Stages of SCA17 Mice
- (2020) Chiao-Chi Chen et al. CEREBELLUM
- Antisense targeting of decoy exons can reduce intron retention and increase protein expression in human erythroblasts
- (2020) Marilyn K Parra et al. RNA
- Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3
- (2020) Yi-Chu Du et al. CEREBELLUM
- Viltolarsen: First Approval
- (2020) Sohita Dhillon DRUGS
- Therapeutic antisense oligonucleotides for movement disorders
- (2020) Epaminondas Doxakis MEDICINAL RESEARCH REVIEWS
- Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression
- (2020) Kian Huat Lim et al. Nature Communications
- The Mechanisms of Nuclear Proteotoxicity in Polyglutamine Spinocerebellar Ataxias
- (2020) Davin Lee et al. Frontiers in Neuroscience
- Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1
- (2020) Kristin A. Ham et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Direct evidence that Ataxin-2 is a translational activator mediating cytoplasmic polyadenylation
- (2020) Hiroto Inagaki et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion
- (2020) Helia Ghahremani Nezhad et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias
- (2019) Ronald A.M. Buijsen et al. Neurotherapeutics
- Therapeutic Antisense Oligonucleotides Are Coming of Age
- (2019) C. Frank Bennett Annual Review of Medicine
- Shaoyao Gancao Tang (SG-Tang), a formulated Chinese medicine, reduces aggregation and exerts neuroprotection in spinocerebellar ataxia type 17 (SCA17) cell and mouse models
- (2019) Chiung-Mei Chen et al. Aging-US
- Suppression of the yeast elongation factor Spt4 ortholog reduces expanded SCA36 GGCCUG repeat aggregation and cytotoxicity
- (2019) Natsumi Furuta et al. BRAIN RESEARCH
- Nucleic Acid Therapeutics for Neurological Diseases
- (2019) Jonathan K. Watts et al. Neurotherapeutics
- Molecular Mechanisms and Therapeutics for SCA17
- (2019) Qiong Liu 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
- Pathophysiology and Therapeutic Perspectives of Oxidative Stress and Neurodegenerative Diseases: A Narrative Review
- (2019) Martina Rekatsina et al. ADVANCES IN THERAPY
- Systematic Approach to Developing Splice Modulating Antisense Oligonucleotides
- (2019) May Aung-Htut et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Removal of the Polyglutamine Repeat of Ataxin-3 by Redirecting pre-mRNA Processing
- (2019) Craig S. McIntosh et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Pueraria lobata and Daidzein Reduce Cytotoxicity by Enhancing Ubiquitin-Proteasome System Function in SCA3-iPSC-Derived Neurons
- (2019) I-Cheng Chen et al. Oxidative Medicine and Cellular Longevity
- Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides
- (2019) May T. Aung-Htut et al. Scientific Reports
- Pathogenesis of SCA3 and implications for other polyglutamine diseases
- (2019) Hayley S. McLoughlin et al. NEUROBIOLOGY OF DISEASE
- Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries
- (2019) Khine Zaw et al. Frontiers in Genetics
- Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice
- (2018) Hayley S. McLoughlin et al. ANNALS OF NEUROLOGY
- Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity
- (2018) Y. Torres-Ramos et al. CEREBELLUM
- Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset
- (2018) Sarah Wiethoff et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?
- (2018) Miaozhen Huang et al. NEUROSCIENCE LETTERS
- Antisense Oligonucleotide-Mediated Terminal Intron Retention of the SMN2 Transcript
- (2018) Loren L. Flynn et al. Molecular Therapy-Nucleic Acids
- 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
- Spinocerebellar ataxias: prospects and challenges for therapy development
- (2018) Tetsuo Ashizawa et al. Nature Reviews Neurology
- Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3
- (2018) Jana Schmidt et al. HUMAN MOLECULAR GENETICS
- 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
- 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
- LSM12 and ME31B/DDX6 Define Distinct Modes of Posttranscriptional Regulation by ATAXIN-2 Protein Complex in Drosophila Circadian Pacemaker Neurons
- (2017) Jongbo Lee et al. MOLECULAR CELL
- Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice
- (2017) Lindsay A. Becker et al. NATURE
- 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
- The chemical evolution of oligonucleotide therapies of clinical utility
- (2017) Anastasia Khvorova et al. NATURE BIOTECHNOLOGY
- 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
- Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients
- (2017) Annie Sittler et al. NEUROPATHOLOGY
- Effects of coenzyme Q10 supplementation on inflammatory markers: A systematic review and meta-analysis of randomized controlled trials
- (2017) Li Fan et al. PHARMACOLOGICAL RESEARCH
- Unraveling the Role of Ataxin-2 in Metabolism
- (2017) Sara Carmo-Silva et al. TRENDS IN ENDOCRINOLOGY AND METABOLISM
- 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
- The Ubiquitination, Disaggregation and Proteasomal Degradation Machineries in Polyglutamine Disease
- (2017) Samir R. Nath et al. Frontiers in Molecular Neuroscience
- Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch
- (2017) E. F. E. Kuiper et al. Frontiers in Neuroscience
- Ataxin-2: From RNA Control to Human Health and Disease
- (2017) Lauren Ostrowski et al. Genes
- 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
- Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
- (2017) Adriano M. de Assis et al. Frontiers in Neurology
- Protein misfolding in neurodegenerative diseases: implications and strategies
- (2017) Patrick Sweeney et al. Translational Neurodegeneration
- DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
- (2016) Conceição Bettencourt et al. ANNALS OF NEUROLOGY
- RNA toxicity induced by expanded CAG repeats in Huntington's disease
- (2016) Eulàlia Martí BRAIN PATHOLOGY
- Impact of Ataxin-2 knock out on circadian locomotor behavior and PER immunoreaction in the SCN of mice
- (2016) Martina Pfeffer et al. CHRONOBIOLOGY INTERNATIONAL
- Genetically modified rodent models of SCA17
- (2016) Yiting Cui et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation
- (2016) Luca Pradotto et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Ataxin-2 (Atxn2)-Knock-Out Mice Show Branched Chain Amino Acids and Fatty Acids Pathway Alterations
- (2016) David Meierhofer et al. MOLECULAR & CELLULAR PROTEOMICS
- Polyglutamine aggregation in Huntington's disease and spinocerebellar ataxia type 3: similar mechanisms in aggregate formation
- (2015) K. Seidel et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation
- (2015) Paola Giunti et al. Frontiers in Cellular Neuroscience
- Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat
- (2015) Daniel R. Scoles et al. PLoS One
- Polyglutamine (PolyQ) Diseases: Genetics to Treatments
- (2014) Hueng-Chuen Fan et al. CELL TRANSPLANTATION
- Trinucleotide expansion in disease: why is there a length threshold?
- (2014) Do-Yup Lee et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- 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
- A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression
- (2014) Katrin Bürk et al. European Journal of Medical Genetics
- Loss of Drosophila Ataxin-7, a SAGA subunit, reduces H2B ubiquitination and leads to neural and retinal degeneration
- (2014) R. D. Mohan et al. GENES & DEVELOPMENT
- 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
- 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
- Brain pathology of spinocerebellar ataxias
- (2012) Kay Seidel et al. ACTA NEUROPATHOLOGICA
- Calcium channels and migraine
- (2012) Daniela Pietrobon BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Alternative splicing: Functional diversity among voltage-gated calcium channels and behavioral consequences
- (2012) Diane Lipscombe et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS
- (2012) Sanjeev Rajakulendran et al. Nature Reviews Neurology
- 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
- Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis
- (2012) Holly B. Kordasiewicz et al. NEURON
- Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation
- (2012) José Barros et al. JAMA Neurology
- 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
- Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway
- (2011) Xin Tong et al. EMBO REPORTS
- Ataxin-2 repeat-length variation and neurodegeneration
- (2011) O. A. Ross et al. HUMAN MOLECULAR GENETICS
- Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference
- (2011) Mateusz de Mezer et al. NUCLEIC ACIDS RESEARCH
- CAG repeats mimic CUG repeats in the misregulation of alternative splicing
- (2011) Agnieszka Mykowska et al. NUCLEIC ACIDS RESEARCH
- Autophagy and polyglutamine diseases
- (2011) Maria Jimenez-Sanchez et al. PROGRESS IN NEUROBIOLOGY
- Nuclear Aggregation of Polyglutamine-expanded Ataxin-3
- (2010) Peter Breuer et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
- (2010) Alexandra Durr LANCET NEUROLOGY
- Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
- (2010) Andrew C. Elden et al. NATURE
- Repeat expansion disease: progress and puzzles in disease pathogenesis
- (2010) Albert R. La Spada et al. NATURE REVIEWS GENETICS
- Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties
- (2010) Ginny Marie Harris et al. PLoS One
- The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
- (2009) Conceição Bettencourt et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3)
- (2009) Conceição Bettencourt et al. NEUROGENETICS
- Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin
- (2009) Luis Velázquez Pérez et al. NEUROSCIENCE LETTERS
- Dissociated Fear and Spatial Learning in Mice with Deficiency of Ataxin-2
- (2009) Duong P. Huynh et al. PLoS One
- The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases
- (2008) K. Usdin GENOME RESEARCH
- RNA toxicity is a component of ataxin-3 degeneration in Drosophila
- (2008) Ling-Bo Li et al. NATURE
- Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions
- (2008) M.P. Socal et al. PARKINSONISM & RELATED DISORDERS
- Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels
- (2008) K. Watase et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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