Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12

Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12

(2015) Yi Dong et al.   PARKINSONISM & RELATED DISORDERS

Altered Nucleosome Positioning at the Transcription Start Site and Deficient Transcriptional Initiation in Friedreich Ataxia

(2014) Yogesh K. Chutake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diffusion Tensor Imaging of Spinocerebellar Ataxia Type 12

(2014) Xiaoning Zhang   MEDICAL SCIENCE MONITOR

Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients

(2012) Zuzana Musova et al.   CEREBELLUM

Diced Triplets Expose Neurons to RISC

(2012) Dobrila D. Rudnicki et al.   PLoS Genetics

Mitochondrial Dysfunction and Oxidative Stress Contribute to the Pathogenesis of Spinocerebellar Ataxia Type 12 (SCA12)

(2011) Yu-Chun Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression

(2010) Chih-Hsin Lin et al.   HUMAN GENETICS

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

(2010) Alessandro Brussino et al.   MOVEMENT DISORDERS

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

PPP2R2BCAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications

(2008) Chiung-Mei Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The Spinocerebellar Ataxia 12 Gene Product and Protein Phosphatase 2A Regulatory Subunit Bβ2 Antagonizes Neuronal Survival by Promoting Mitochondrial Fission

(2008) Ruben K. Dagda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Concomitant TAR-DNA-Binding Protein 43 Pathology Is Present in Alzheimer Disease and Corticobasal Degeneration but Not in Other Tauopathies

(2008) Kunihiro Uryu et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Enlargement of the lateral ventricles in mutant DISC1 transgenic mice

(2008) M V Pletnikov et al.   MOLECULAR PSYCHIATRY

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

(2008) Ling-Bo Li et al.   NATURE

Developmental neurotoxicity testing in vitro: Models for assessing chemical effects on neurite outgrowth

(2008) Nicholas M. Radio et al.   NEUROTOXICOLOGY

PP2A holoenzyme assembly: in cauda venenum (the sting is in the tail)

(2008) Veerle Janssens et al.   TRENDS IN BIOCHEMICAL SCIENCES