title: Cell biology of spinocerebellar ataxia.
abstract: Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the more prevalent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat that encodes a polyglutamine tract in the affected protein. How the mutated proteins in these polyglutamine SCAs cause disease is highly debated. Recent work suggests that the mutated protein contributes to pathogenesis within the context of its "normal" cellular function. Thus, understanding the cellular function of these proteins could aid in the development of therapeutics.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN 55455, USA. orrxx002@umn.edu
authors.forename: Harry T
authors.initials: HT
authors.lastname: Orr
mesh_terms: D000595:Amino Acid Sequence; D000067696:Ataxin-1; D000067528:Ataxins; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010455:Peptides / Q000737:chemistry*; D014176:Protein Biosynthesis; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000378:metabolism; D015398:Signal Transduction; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D018911:Trinucleotide Repeats
chemical_list: C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D010455:Peptides; C121693:RBM17 protein, human; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins; C097188:polyglutamine