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

Cognitive Impairment in Native Chinese with Spinocerebellar Ataxia Type 3

(2014) Li Feng et al.   EUROPEAN NEUROLOGY

Age-Dependent Decrease in Chaperone Activity Impairs MANF Expression, Leading to Purkinje Cell Degeneration in Inducible SCA17 Mice

(2014) Su Yang et al.   NEURON

Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy

(2013) Bilal Malik et al.   BRAIN

Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3

(2013) Tátila Martins Lopes et al.   JOURNAL OF NEUROLOGY

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

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

Progressive cognitive dysfunction in spinocerebellar ataxia type 3

(2013) Sandra Roeske et al.   MOVEMENT DISORDERS

Alternative cleavage and polyadenylation: extent, regulation and function

(2013) Ran Elkon et al.   NATURE REVIEWS GENETICS

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

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Suppression of protein aggregation by chaperone modification of high molecular weight complexes

(2012) John Labbadia et al.   BRAIN

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Methylene Blue Modulates Huntingtin Aggregation Intermediates and Is Protective in Huntington's Disease Models

(2012) E. M. Sontag et al.   JOURNAL OF NEUROSCIENCE

Autophagy-related proteins (p62, NBR1 and LC3) in intranuclear inclusions in neurodegenerative diseases

(2012) Fumiaki Mori et al.   NEUROSCIENCE LETTERS

Mouse Models of Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease)

(2012) Veronica F. Colomer Gould   Neurotherapeutics

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

(2012) Ewa Damrath et al.   PLoS Genetics

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

(2011) Isabel Nascimento-Ferreira et al.   BRAIN

RNA polymerase II kinetics inpolopolyadenylation signal selection

(2011) Pedro A B Pinto et al.   EMBO JOURNAL

Deletion of the Mouse Homolog of KCNAB2, a Gene Linked to Monosomy 1p36, Results in Associative Memory Impairments and Amygdala Hyperexcitability

(2011) J. J. Perkowski et al.   JOURNAL OF NEUROSCIENCE

Molecular chaperones in protein folding and proteostasis

(2011) F. Ulrich Hartl et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

What have we learned from gene expression profiles in Huntington's disease?

(2011) Tamara Seredenina et al.   NEUROBIOLOGY OF DISEASE

Cellular protein quality control and the evolution of aggregates in spinocerebellar ataxia type 3 (SCA3)

(2011) K. Seidel et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Axonal inclusions in spinocerebellar ataxia type 3

(2010) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Early autophagic response in a novel knock-in model of Huntington disease

(2010) Mary Y. Heng et al.   HUMAN MOLECULAR GENETICS

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

Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties

(2010) Ginny Marie Harris et al.   PLoS One

Polyglutamine Diseases: Where does Toxicity Come from? What is Toxicity? Where are We Going?

(2010) T. Takahashi et al.   Journal of Molecular Cell Biology

The Occurrence of Aging-Dependent Reticulon 3 Immunoreactive Dystrophic Neurites Decreases Cognitive Function

(2009) Q. Shi 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 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