Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2

Differentiation Between Multiple System Atrophy and Other Spinocerebellar Degenerations Using Diffusion Kurtosis Imaging

(2019) Kenji Ito et al.   ACADEMIC RADIOLOGY

Nerve ultrasound as a diagnostic tool for sensory neuronopathy in spinocerebellar ataxia syndrome

(2019) Ruth Leadbetter et al.   CLINICAL NEUROPHYSIOLOGY

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

Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role for glutamate in disease pathology

(2019) Ching-Yu Chuang et al.   Scientific Reports

Guidelines on the diagnosis and management of the progressive ataxias

(2019) Rajith de Silva et al.   Orphanet Journal of Rare Diseases

Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor

(2019) Ruo-Yah Lai et al.   CEREBELLUM

Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat

(2019) Collin J. Anderson et al.   ANNALS OF NEUROLOGY

Sleep spindles and K-complex activities are decreased in Spinocerebellar Ataxia type 2: relationship to memory and motor performances

(2019) Roberto Rodríguez-Labrada et al.   SLEEP MEDICINE

Ca 2+ signaling and spinocerebellar ataxia

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

Microbiome Influences Prenatal and Adult Microglia in a Sex-Specific Manner

(2018) Morgane Sonia Thion et al.   CELL

In Vivo Analysis of the Climbing Fiber-Purkinje Cell Circuit in SCA2-58Q Transgenic Mouse Model

(2018) Polina A. Egorova et al.   CEREBELLUM

Intravenously Administered Novel Liposomes, DCL64, Deliver Oligonucleotides to Cerebellar Purkinje Cells

(2018) Ana Tari Ashizawa et al.   CEREBELLUM

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2

(2018) L.E. Almaguer-Mederos et al.   CLINICAL GENETICS

Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study

(2018) Luis Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

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

(2018) Etsuko Shimobayashi et al.   Current Neuropharmacology

Type 1 metabotropic glutamate receptor and its signaling molecules as therapeutic targets for the treatment of cerebellar disorders

(2018) Hirokazu Hirai et al.   CURRENT OPINION IN PHARMACOLOGY

The central role of DNA damage and repair in CAG repeat diseases

(2018) Thomas H. Massey et al.   Disease Models & Mechanisms

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

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

Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia

(2018) Ravi Chopra et al.   HUMAN MOLECULAR GENETICS

The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population

(2018) Ji Sun Kim et al.   Journal of Clinical Neurology

Spinocerebellar Ataxia Tethering PCR

(2018) Claudia Cagnoli et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Structural Complexity of the Cerebellum and Cerebral Cortex is Reduced in Spinocerebellar Ataxia Type 2

(2018) Chiara Marzi et al.   JOURNAL OF NEUROIMAGING

Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2

(2018) G. Olivito et al.   JOURNAL OF NEUROLOGY

Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study

(2018) Carlo Wilke et al.   JOURNAL OF NEUROLOGY

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

(2018) Heike Jacobi et al.   JOURNAL OF NEUROLOGY

Altered homeostasis of trace elements in the blood of SCA2 patients

(2018) Stefania Squadrone et al.   JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

(2018) Alhassane Diallo et al.   LANCET NEUROLOGY

Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis

(2018) Young-Eun Kim et al.   NEUROBIOLOGY OF AGING

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2

(2018) Hamid Hamzeiy et al.   Neurodegenerative Diseases

Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy

(2018) Antonella Antenora et al.   NEUROLOGICAL SCIENCES

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

(2018) Theresa A. Zesiewicz et al.   NEUROLOGY

RNP-Granule Assembly via Ataxin-2 Disordered Domains Is Required for Long-Term Memory and Neurodegeneration

(2018) Baskar Bakthavachalu et al.   NEURON

Ion channel dysfunction in cerebellar ataxia

(2018) David D. Bushart et al.   NEUROSCIENCE LETTERS

Histogram analysis of DTI-derived indices reveals pontocerebellar degeneration and its progression in SCA2

(2018) Mario Mascalchi et al.   PLoS One

Inhibition of NF-κB signaling in IKKβF/F;LysM Cre mice causes motor deficits but does not alter pathogenesis of Spinocerebellar ataxia type 1

(2018) Austin Ferro et al.   PLoS One

A peptidylic inhibitor for neutralizing expanded CAG RNA-induced nucleolar stress in polyglutamine diseases

(2018) Qian Zhang et al.   RNA

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

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

Microglia permit climbing fiber elimination by promoting GABAergic inhibition in the developing cerebellum

(2018) Hisako Nakayama et al.   Nature Communications

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

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes

(2018) Isaac M. Adanyeguh et al.   NeuroImage-Clinical

Targeting potassium channels to treat cerebellar ataxia

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

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

(2018) Kathrin Reetz et al.   Annals of Clinical and Translational Neurology

Selective Forces Related to Spinocerebellar Ataxia Type 2

(2018) Lucas Schenatto Sena et al.   CEREBELLUM

Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2)

(2018) Alessandra Zanatta et al.   CEREBELLUM

The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2

(2018) Michela Lupo et al.   CORTEX

DNA repair in trinucleotide repeat ataxias

(2018) Wai Yan Yau et al.   FEBS Journal

Inhibition of NF-κB in astrocytes is sufficient to delay neurodegeneration induced by proteotoxicity in neurons

(2018) Y. X. Li et al.   Journal of Neuroinflammation

Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial

(2018) Julio Cesar Rodríguez-Díaz et al.   MOVEMENT DISORDERS

Spinocerebellar ataxias: prospects and challenges for therapy development

(2018) Tetsuo Ashizawa et al.   Nature Reviews Neurology

Optokinetic nystagmus in patients with SCA

(2018) Doniparthi V. Seshagiri et al.   NEUROLOGY

Roles of Post-translational Modifications in Spinocerebellar Ataxias

(2018) Linlin Wan et al.   Frontiers in Cellular Neuroscience

Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration

(2018) Sharan Paul et al.   Nature Communications

Voxel-based meta-analysis of gray and white matter volume abnormalities in spinocerebellar ataxia type 2

(2018) Qing Han et al.   Brain and Behavior

Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7

(2018) Carlos R. Hernandez-Castillo et al.   NeuroImage-Clinical

A new MRI marker of ataxia with oculomotor apraxia

(2018) Solène Ronsin et al.   EUROPEAN JOURNAL OF RADIOLOGY

Effect of prenatal tramadol on postnatal cerebellar development: Role of oxidative stress

(2018) Basma Emad Aboulhoda et al.   JOURNAL OF CHEMICAL NEUROANATOMY

Comparable progression of spinocerebellar ataxias between Caucasians and Chinese

(2018) Yi-Cheng Lin et al.   PARKINSONISM & RELATED DISORDERS

MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias

(2018) Alexander S. Brown et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene

(2018) Jean Ann Maguire et al.   Stem Cell Research

Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2

(2017) James M Dell’Orco et al.   HUMAN MOLECULAR GENETICS

Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2

(2017) Lance T. Pflieger et al.   HUMAN MOLECULAR GENETICS

Endogenous signalling pathways and caged IP3evoke Ca2+puffs at the same abundant immobile intracellular sites

(2017) Michael V. Keebler et al.   JOURNAL OF CELL SCIENCE

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

(2017) Wenhui Qu et al.   Journal of Neuroinflammation

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis

(2017) Francesca Rosini et al.   JOURNAL OF PHYSIOLOGY-LONDON

Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2

(2017) Luis E. Almaguer-Mederos et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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 spinocerebellar ataxias — from genes to potential treatments

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

Peripheral markers of autophagy in polyglutamine diseases

(2017) Giorgia Puorro et al.   NEUROLOGICAL SCIENCES

Microstructural MRI Basis of the Cognitive Functions in Patients with Spinocerebellar Ataxia Type 2

(2017) G. Olivito et al.   NEUROSCIENCE

SCA2 family presenting as typical Parkinson's disease: 34 year follow up

(2017) Young Eun Kim et al.   PARKINSONISM & RELATED DISORDERS

Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors

(2017) Thais Lampert Monte et al.   PARKINSONISM & RELATED DISORDERS

Dystonia and ataxia progression in spinocerebellar ataxias

(2017) Pei-Hsin Kuo et al.   PARKINSONISM & RELATED DISORDERS

A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2

(2017) Pratap Meera et al.   eLife

Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis

(2017) G. Olivito et al.   NeuroImage-Clinical

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

(2017) Luis C. Velázquez-Pérez et al.   Frontiers in Neurology

Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity

(2017) Dennis Almaguer-Gotay et al.   Frontiers in Neurology

Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases

(2016) Sheng-Han Kuo et al.   ACTA NEUROPATHOLOGICA

ATXN2-AS, a gene antisense toATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis

(2016) Pan P. Li 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

On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3

(2016) Kay Seidel et al.   BRAIN PATHOLOGY

The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

(2016) Lan Luo et al.   CEREBELLUM

Corticomuscular Coherence: a Novel Tool to Assess the Pyramidal Tract Dysfunction in Spinocerebellar Ataxia Type 2

(2016) Luis Velázquez-Pérez et al.   CEREBELLUM

Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway

(2016) Melanie Vanessa Halbach et al.   CEREBELLUM

The Roles of the Olivocerebellar Pathway in Motor Learning and Motor Control. A Consensus Paper

(2016) Eric J. Lang et al.   CEREBELLUM

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

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

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

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

The dynamic relationship between cerebellar Purkinje cell simple spikes and the spikelet number of complex spikes

(2016) Amelia Burroughs et al.   JOURNAL OF PHYSIOLOGY-LONDON

Cellular and circuit mechanisms underlying spinocerebellar ataxias

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

Vestibulo-ocular reflex dynamics with head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 and Friedreich ataxia

(2016) L. Luis et al.   JOURNAL OF VESTIBULAR RESEARCH-EQUILIBRIUM & ORIENTATION

Heat shock proteins as potential targets for protective strategies in neurodegeneration

(2016) Harm H Kampinga et al.   LANCET NEUROLOGY

Ataxin-2 (Atxn2)-Knock-Out Mice Show Branched Chain Amino Acids and Fatty Acids Pathway Alterations

(2016) David Meierhofer et al.   MOLECULAR & CELLULAR PROTEOMICS

Mitochondrial fission protein Drp1 regulates mitochondrial transport and dendritic arborization in cerebellar Purkinje cells

(2016) Kansai Fukumitsu et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Modulation of Molecular Chaperones in Huntington’s Disease and Other Polyglutamine Disorders

(2016) Sara D. Reis et al.   MOLECULAR NEUROBIOLOGY

Central motor conduction time as prodromal biomarker in spinocerebellar ataxia type 2

(2016) Luis Velázquez-Pérez et al.   MOVEMENT DISORDERS

Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials

(2016) Roberto Rodríguez-Labrada et al.   MOVEMENT DISORDERS

RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease

(2016) Aurore Nkiliza et al.   NEUROBIOLOGY OF DISEASE

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder

(2016) Julie M. Jones et al.   NEUROBIOLOGY OF DISEASE

Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels

(2016) Nesli Ece Sen et al.   NEUROBIOLOGY OF DISEASE

Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control

(2016) C.J.L.M. Smeets et al.   NEUROBIOLOGY OF DISEASE

The electrophysiology of spinocerebellar ataxias

(2016) Lipin Liang et al.   NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

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

Azadiradione ameliorates polyglutamine expansion disease in Drosophila by potentiating DNA binding activity of heat shock factor 1

(2016) Vinod K. Nelson et al.   Oncotarget

Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review

(2016) João M. Da Conceição Alves-Cruzeiro et al.   Frontiers in Neuroscience

Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study

(2015) Ashley M. Brouillette et al.   DISEASE MARKERS

Spinocerebellar Ataxia Type 6 Protein Aggregates Cause Deficits in Motor Learning and Cerebellar Plasticity

(2015) M. D. Mark et al.   JOURNAL OF NEUROSCIENCE

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

Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate

(2015) M. Fittschen et al.   NEUROGENETICS

Circuit Mechanisms Underlying Motor Memory Formation in the Cerebellum

(2015) Ka Hung Lee et al.   NEURON

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

(2015) M. Cvetanovic et al.   NEUROSCIENCE

Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's disease

(2015) Polina Egorova et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

Polyglutamine expansion disturbs the endoplasmic reticulum formation, leading to caspase-7 activation through Bax

(2014) Masashi Ueda et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Neuropathological Staging of Spinocerebellar Ataxia Type 2 by Semiquantitative 1C2-Positive Neuron Typing. Nuclear Translocation of Cytoplasmic 1C2 Underlies Disease Progression of Spinocerebellar Ataxia Type 2

(2014) Shigeru Koyano et al.   BRAIN PATHOLOGY

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases

(2014) Leonardo Baldarçara et al.   CEREBELLUM

Coenzyme Q10 and spinocerebellar ataxias

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

Cyclin-dependent kinase 5 phosphorylates and induces the degradation of ataxin-2

(2014) Akiko Asada et al.   NEUROSCIENCE LETTERS

Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor

(2014) C. Long et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Purkinje Cell Ataxin-1 Modulates Climbing Fiber Synaptic Input in Developing and Adult Mouse Cerebellum

(2013) B. A. Ebner et al.   JOURNAL OF NEUROSCIENCE

Calcium-dependent regulation of climbing fibre synapse elimination during postnatal cerebellar development

(2013) Masanobu Kano et al.   JOURNAL OF PHYSIOLOGY-LONDON

Gating of long-term depression by Ca2+/calmodulin-dependent protein kinase II through enhanced cGMP signalling in cerebellar Purkinje cells

(2013) Shin-ya Kawaguchi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Aggregation formation in the polyglutamine diseases: Protection at a cost?

(2013) Tiffany W. Todd et al.   MOLECULES AND CELLS

ATAXIN-2 Activates PERIOD Translation to Sustain Circadian Rhythms in Drosophila

(2013) C. Lim et al.   SCIENCE

A Role for Drosophila ATX2 in Activation of PER Translation and Circadian Behavior

(2013) Y. Zhang et al.   SCIENCE

US Renal Data System 2012 Annual Data Report

(2012) Allan J. Collins et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Lisuride Reduces Involuntary Periodic Leg Movements in Spinocerebellar Ataxia Type 2 Patients

(2012) Luis Velázquez-Pérez et al.   CEREBELLUM

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

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

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

Spinocerebellar Ataxia Type 2: Clinical Presentation, Molecular Mechanisms, and Therapeutic Perspectives

(2012) J. J. Magaña et al.   MOLECULAR NEUROBIOLOGY

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

SCA1—Phosphorylation, a regulator of Ataxin-1 function and pathogenesis

(2012) Harry T. Orr   PROGRESS IN NEUROBIOLOGY

Oxidative stress as a cofactor in spinocerebellar ataxia type 2

(2012) Mariela Guevara-García et al.   REDOX REPORT

ATXN2-CAG42 Sequesters PABPC1 into Insolubility and Induces FBXW8 in Cerebellum of Old Ataxic Knock-In Mice

(2012) Ewa Damrath et al.   PLoS Genetics

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

(2011) Xuesong Chen et al.   CHEMISTRY & BIOLOGY

Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1

(2011) Leroy Hubert et al.   HUMAN MOLECULAR GENETICS

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

Spatiotemporal firing patterns in the cerebellum

(2011) Chris I. De Zeeuw et al.   NATURE REVIEWS NEUROSCIENCE

Sleep Disorders in Spinocerebellar Ataxia Type 2 Patients

(2011) Luis Velázquez-Pérez et al.   Neurodegenerative Diseases

Distinct Neurochemical Profiles of Spinocerebellar Ataxias 1, 2, 6, and Cerebellar Multiple System Atrophy

(2010) Gülin Öz et al.   CEREBELLUM

The Therapeutic Mode of Action of 4-Aminopyridine in Cerebellar Ataxia

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

KCa Channels as Therapeutic Targets in Episodic Ataxia Type-2

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

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Mesenchymal stem cells rescue Purkinje cells and improve motor functions in a mouse model of cerebellar ataxia

(2010) Jonathan Jones et al.   NEUROBIOLOGY OF DISEASE

Modulation of Heat Shock Transcription Factor 1 as a Therapeutic Target for Small Molecule Intervention in Neurodegenerative Disease

(2010) Daniel W. Neef et al.   PLOS BIOLOGY

Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

(2009) L. Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

Compensatory Regulation of Cav2.1 Ca2+ Channels in Cerebellar Purkinje Neurons Lacking Parvalbumin and Calbindin D-28k

(2009) Lisa Kreiner et al.   JOURNAL OF NEUROPHYSIOLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

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

Ataxin-2 associates with rough endoplasmic reticulum

(2008) Simone van de Loo et al.   EXPERIMENTAL NEUROLOGY

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice

(2008) Isabel Lastres-Becker et al.   HUMAN MOLECULAR GENETICS

Suppression of neuropil aggregates and neurological symptoms by an intracellular antibody implicates the cytoplasmic toxicity of mutant huntingtin

(2008) Chuan-En Wang et al.   JOURNAL OF CELL BIOLOGY

PKC  mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling

(2008) D. S. Verbeek et al.   JOURNAL OF CELL SCIENCE

The Origin of the Complex Spike in Cerebellar Purkinje Cells

(2008) J. T. Davie et al.   JOURNAL OF NEUROSCIENCE

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis

(2008) Aislinn J. Williams et al.   NEUROBIOLOGY OF DISEASE

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

(2008) T. Schmitz-Hubsch et al.   NEUROLOGY

Delivery of the aggregate inhibitor peptide QBP1 into the mouse brain using PTDs and its therapeutic effect on polyglutamine disease mice

(2008) H. Akiko Popiel et al.   NEUROSCIENCE LETTERS