Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease
characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia …

Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the
proteasomal protein degradation pathway and regulation of transcription. The C-terminus of …

Robust biomarkers of neurodegeneration are critical for testing of neuroprotective therapies.
The clinical applicability of such biomarkers requires sufficient sensitivity to detect disease in …

Polyglutamine (polyQ)-expanded mutant ataxin-3 protein, which is prone to misfolding and
aggregation, leads to cerebellar neurotoxicity in spinocerebellar ataxia type 3 (SCA3), an …

Polyglutamine expansion in certain proteins causes neurodegeneration in inherited
disorders such as Huntington disease and X-linked spinobulbar muscular atrophy …

Background Hereditary ataxia (HA) represents a group of genetically heterogeneous
neurodegenerative diseases caused by dysfunction of the cerebellum or disruption of the …

RORα (R etinoid-related O rphan R eceptor) is a transcription factor belonging to the
superfamily of nuclear receptors. The spontaneous staggerer (sg) mutation, which consists …

Although the polyglutamine protein ataxin-1 is modified by SUMO at multiple sites, the
functions of such modification or how it is regulated are still unknown. Here we report that …

S100B, a glial-secreted protein, is believed to play a major role in neurodegeneration in
Alzheimer's disease, Down syndrome, traumatic brain injury, and spinocerebellar ataxia …

Abstract Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, and 17 and
dentatorubropallidoluysian atrophy, as well as Huntington disease, are a group of …