A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes

Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease

(2020) Jonasz J Weber et al.   HUMAN MOLECULAR GENETICS

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

(2020) Carlo Wilke et al.   EMBO Molecular Medicine

In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3

(2020) Maria do Carmo Costa et al.   MOVEMENT DISORDERS

Real-life gait assessment in degenerative cerebellar ataxia: Towards ecologically valid biomarkers

(2020) Winfried Ilg et al.   NEUROLOGY

Increased expression of myelin-associated genes in frontal cortex of SNCA overexpressing rats and Parkinson’s disease patients

(2020) Thomas Hentrich et al.   Aging-US

RAN Translation of the Expanded CAG Repeats in the SCA3 Disease Context

(2020) Magdalena Jazurek-Ciesiolka et al.   JOURNAL OF MOLECULAR BIOLOGY

Altered Levels of Proteins and Phosphoproteins, in the Absence of Early Causative Transcriptional Changes, Shape the Molecular Pathogenesis in the Brain of Young Presymptomatic Ki91 SCA3/MJD Mouse

(2019) Kalina Wiatr et al.   MOLECULAR NEUROBIOLOGY

Pathogenesis of SCA3 and implications for other polyglutamine diseases

(2019) Hayley S. McLoughlin et al.   NEUROBIOLOGY OF DISEASE

Development of an AAV-Based MicroRNA Gene Therapy to Treat Machado-Joseph Disease

(2019) Raygene Martier et al.   Molecular Therapy-Methods & Clinical Development

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice

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

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

(2018) Lodewijk J. A. Toonen et al.   Molecular Neurodegeneration

SNCA overexpression disturbs hippocampal gene expression trajectories in midlife

(2018) Thomas Hentrich et al.   Aging-US

Physiological and pathophysiological characteristics of ataxin-3 isoforms

(2018) Daniel Weishäupl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

(2017) Biswarathan Ramani et al.   HUMAN MOLECULAR GENETICS

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

Interleukin33 deficiency causes tau abnormality and neurodegeneration with Alzheimer-like symptoms in aged mice

(2017) C Carlock et al.   Translational Psychiatry

Protein misfolding in neurodegenerative diseases: implications and strategies

(2017) Patrick Sweeney et al.   Translational Neurodegeneration

Untangling the brain’s neuroinflammatory and neurodegenerative transcriptional responses

(2016) Karpagam Srinivasan et al.   Nature Communications

Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease

(2015) Jing Jin et al.   HUMAN MOLECULAR GENETICS

A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD

(2015) Pawel M. Switonski et al.   NEUROBIOLOGY OF DISEASE

Mutant Huntingtin Downregulates Myelin Regulatory Factor-Mediated Myelin Gene Expression and Affects Mature Oligodendrocytes

(2015) Brenda Huang et al.   NEURON

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

(2014) Biswarathan Ramani et al.   HUMAN MOLECULAR GENETICS

Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice

(2014) Masaru Kurosawa et al.   HUMAN MOLECULAR GENETICS

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Proteostasis impairment in protein-misfolding and -aggregation diseases

(2014) Mark S. Hipp et al.   TRENDS IN CELL BIOLOGY

White matter damage is related to ataxia severity in SCA3

(2013) J.-S. Kang et al.   JOURNAL OF NEUROLOGY

Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease

(2013) Maria do Carmo Costa et al.   MOLECULAR THERAPY

Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3

(2013) Noriaki Suga et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

(2013) Jing Wang et al.   NUCLEIC ACIDS RESEARCH

The Role of Interruptions in polyQ in the Pathology of SCA1

(2013) Rajesh P. Menon et al.   PLoS Genetics

The sva package for removing batch effects and other unwanted variation in high-throughput experiments

(2012) Jeffrey T. Leek et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Cell population-specific expression analysis of human cerebellum

(2012) Alexandre Kuhn et al.   BMC GENOMICS

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

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

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

(2012) Ewa Damrath et al.   PLoS Genetics

N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation

(2011) Jeannette Hübener et al.   BRAIN

Pathoanatomy of Cerebellar Degeneration in Spinocerebellar Ataxia Type 2 (SCA2) and Type 3 (SCA3)

(2011) W. Scherzed et al.   CEREBELLUM

Body Mass Index is Inversely Correlated with the Expanded CAG Repeat Length in SCA3/MJD Patients

(2011) Jonas Alex Morales Saute et al.   CEREBELLUM

Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

(2011) Jonas Alex Morales Saute et al.   CEREBELLUM

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

Defining Genetic Factors That Modulate Intergenerational CAG Repeat Instability in Drosophila melanogaster

(2010) J. Jung et al.   GENETICS

Targeted Genome Modification in Mice Using Zinc-Finger Nucleases

(2010) I. D. Carbery et al.   GENETICS

Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3

(2010) Jonas Alex Morales Saute et al.   MOVEMENT DISORDERS

Motor uncoordination and neuropathology in a transgenic mouse model of Machado–Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products

(2010) Anabela Silva-Fernandes et al.   NEUROBIOLOGY OF DISEASE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3

(2009) Jana Boy et al.   HUMAN MOLECULAR GENETICS

Adipose tissue dysfunction tracks disease progression in two Huntington's disease mouse models

(2009) Jack Phan et al.   HUMAN MOLECULAR GENETICS

A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats

(2009) Jana Boy et al.   NEUROBIOLOGY OF DISEASE

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM

Sex differences in a transgenic rat model of Huntington's disease: decreased 17β-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males

(2008) Felix J. Bode et al.   HUMAN MOLECULAR GENETICS

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

(2008) Ling-Bo Li et al.   NATURE