标题
Polyglutamine spinocerebellar ataxias — from genes to potential treatments
作者
关键词
-
出版物
NATURE REVIEWS NEUROSCIENCE
Volume 18, Issue 10, Pages 613-626
出版商
Springer Nature
发表日期
2017-08-17
DOI
10.1038/nrn.2017.92
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
- Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models
- (2017) Lauren R. Moore et al. Molecular Therapy-Nucleic Acids
- Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions
- (2016) Rachel H Tan 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
- Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation
- (2016) Isabel Lastres-Becker et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3
- (2016) Maria do Carmo Costa et al. BRAIN
- Corticomuscular Coherence: a Novel Tool to Assess the Pyramidal Tract Dysfunction in Spinocerebellar Ataxia Type 2
- (2016) Luis Velázquez-Pérez et al. CEREBELLUM
- Abnormal corticospinal tract function and motor cortex excitability in non-ataxic SCA2 mutation carriers: A TMS study
- (2016) Luis Velázquez-Pérez et al. CLINICAL NEUROPHYSIOLOGY
- 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 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
- Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
- (2016) Richard S Finkel et al. LANCET
- A unifying mechanism in neurodegeneration
- (2016) Christopher A. Ross et al. NATURE
- Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology
- (2016) Céline Ruegsegger et al. NEURON
- Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways
- (2016) Melissa Ingram et al. NEURON
- The electrophysiology of spinocerebellar ataxias
- (2016) Lipin Liang et al. NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY
- Cell size and fat content of dietary-restrictedCaenorhabditis elegansare regulated by ATX-2, an mTOR repressor
- (2016) Daniel Z. Bar et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron
- (2016) Yu Miyazaki et al. Science Translational Medicine
- CCT complex restricts neuropathogenic protein aggregation via autophagy
- (2016) Mariana Pavel et al. Nature Communications
- 4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6
- (2016) Sriram Jayabal et al. Scientific Reports
- A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
- (2015) Marie Coutelier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease
- (2015) Andreia Teixeira-Castro et al. BRAIN
- 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
- Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability
- (2015) J. M. Dell'Orco et al. JOURNAL OF NEUROSCIENCE
- Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
- (2015) Heike Jacobi et al. LANCET NEUROLOGY
- Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module
- (2015) Xianjiang Lan et al. MOLECULAR AND CELLULAR BIOLOGY
- In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7
- (2015) Isaac M. Adanyeguh et al. MOVEMENT DISORDERS
- Reinstating Aberrant mTORC1 Activity in Huntington’s Disease Mice Improves Disease Phenotypes
- (2015) John H. Lee et al. NEURON
- RAN Translation in Huntington Disease
- (2015) Monica Bañez-Coronel et al. NEURON
- 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
- Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression
- (2015) Amber L. Southwell et al. Scientific Reports
- Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model
- (2015) Warunee Dansithong et al. PLoS Genetics
- 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
- ELOVL5 Mutations Cause Spinocerebellar Ataxia 38
- (2014) Eleonora Di Gregorio et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders
- (2014) John Douglas Cleary 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
- 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
- A novel missense mutation inCCDC88Cactivates the JNK pathway and causes a dominant form of spinocerebellar ataxia
- (2014) Ho Tsoi et al. JOURNAL OF MEDICAL GENETICS
- CDK5 protects from caspase-induced Ataxin-3 cleavage and neurodegeneration
- (2014) Jan Liman et al. JOURNAL OF NEUROCHEMISTRY
- Do mutations in the murine ataxia geneTRPC3cause cerebellar ataxia in humans?
- (2014) Brent L. Fogel et al. MOVEMENT DISORDERS
- Coupling mRNA processing with transcription in time and space
- (2014) David L. Bentley NATURE REVIEWS GENETICS
- Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization
- (2014) Y.-C. Guo et al. NEUROLOGY
- RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease
- (2014) Clévio Nóbrega et al. PLoS One
- Ubiquitin-binding site 2 of ataxin-3 prevents its proteasomal degradation by interacting with Rad23
- (2014) Jessica R. Blount et al. Nature Communications
- Expanding the Clinical Phenotype Associated WithELOVL4Mutation
- (2014) Maxime Cadieux-Dion et al. JAMA Neurology
- Allele-Selective Inhibition of Expression of Huntingtin and Ataxin-3 by RNA Duplexes Containing Unlocked Nucleic Acid Substitutions
- (2013) Yuichiro Aiba et al. BIOCHEMISTRY
- Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6
- (2013) Kathrin Reetz et al. BRAIN
- Second Cistron in CACNA1A Gene Encodes a Transcription Factor Mediating Cerebellar Development and SCA6
- (2013) Xiaofei Du et al. CELL
- Ubiquitination Regulates the Neuroprotective Function of the Deubiquitinase Ataxin-3in Vivo
- (2013) Wei-Ling Tsou et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- 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
- Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
- (2013) Tetsuo Ashizawa et al. Orphanet Journal of Rare Diseases
- 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
- Hsp104 Suppresses Polyglutamine-Induced Degeneration Post Onset in a Drosophila MJD/SCA3 Model
- (2013) Mimi Cushman-Nick et al. PLoS Genetics
- Ataxin-3 and Its E3 Partners: Implications for Machado–Joseph Disease
- (2013) Thomas M. Durcan et al. Frontiers in Neurology
- Brain pathology of spinocerebellar ataxias
- (2012) Kay Seidel et al. ACTA NEUROPATHOLOGICA
- 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
- A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
- (2012) K. E. Hekman et al. HUMAN MOLECULAR GENETICS
- Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2
- (2012) S. T. Hansen et al. HUMAN MOLECULAR GENETICS
- Ataxin-3 Regulates Aggresome Formation of Copper-Zinc Superoxide Dismutase (SOD1) by Editing K63-linked Polyubiquitin Chains
- (2012) Hongfeng Wang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Transient Sequestration of TORC1 into Stress Granules during Heat Stress
- (2012) Terunao Takahara et al. MOLECULAR CELL
- Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6
- (2012) T. Unno et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- ATXN2-CAG42 Sequesters PABPC1 into Insolubility and Induces FBXW8 in Cerebellum of Old Ataxic Knock-In Mice
- (2012) Ewa Damrath et al. PLoS Genetics
- Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model
- (2011) Kristin M. Gehrking 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
- Spinocerebellar Ataxia Type 7 Cerebellar Disease Requires the Coordinated Action of Mutant Ataxin-7 in Neurons and Glia, and Displays Non-Cell-Autonomous Bergmann Glia Degeneration
- (2011) S. A. Furrer 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
- Abnormalities in the Climbing Fiber-Purkinje Cell Circuitry Contribute to Neuronal Dysfunction in ATXN1[82Q] Mice
- (2011) J. A. Barnes et al. JOURNAL OF NEUROSCIENCE
- Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: A toxic RNA gain-of-function model
- (2011) Misti White et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Ube2w and Ataxin-3 Coordinately Regulate the Ubiquitin Ligase CHIP
- (2011) K. Matthew Scaglione et al. MOLECULAR CELL
- Spatiotemporal firing patterns in the cerebellum
- (2011) Chris I. De Zeeuw et al. NATURE REVIEWS NEUROSCIENCE
- The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study
- (2011) H. Jacobi et al. NEUROLOGY
- Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
- (2011) P. Van Damme et al. NEUROLOGY
- 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
- Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua
- (2011) J. D. Fryer et al. SCIENCE
- A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression
- (2010) Edward L. Huttlin et al. CELL
- 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
- SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776
- (2010) Lisa Duvick et al. NEURON
- Non-ATG-initiated translation directed by microsatellite expansions
- (2010) T. Zu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling
- (2010) Stephanie Schorge et al. TRENDS IN NEUROSCIENCES
- Rethinking ALS: The FUS about TDP-43
- (2009) Clotilde Lagier-Tourenne et al. CELL
- Emerging pathogenic pathways in the spinocerebellar ataxias
- (2009) Kerri M Carlson et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado–Joseph disease)
- (2009) Udo Rüb et al. CURRENT OPINION IN NEUROLOGY
- Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3
- (2009) Jana Boy et al. HUMAN MOLECULAR GENETICS
- Phosphorylation of ATXN1 at Ser776 in the cerebellum
- (2009) Nathan D. Jorgensen et al. JOURNAL OF NEUROCHEMISTRY
- Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6
- (2009) Jörg B. Schulz et al. NEUROIMAGE
- Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites
- (2009) K. Gierga et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Phosphorylation of S776 and 14-3-3 Binding Modulate Ataxin-1 Interaction with Splicing Factors
- (2009) Cesira de Chiara et al. PLoS One
- Electrophysiology in spinocerebellar ataxias: Spread of disease and characteristic findings
- (2008) Ludger Schöls et al. CEREBELLUM
- SCA13
- (2008) M. F. Waters et al. CEREBELLUM
- SCA3: Neurological features, pathogenesis and animal models
- (2008) Olaf Riess et al. CEREBELLUM
- Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
- (2008) Christoph Globas et al. MOVEMENT DISORDERS
- Tumour maintenance is mediated by eNOS
- (2008) Kian-Huat Lim et al. NATURE
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