The cell biology of disease: Cell biology of spinocerebellar ataxia

By H. Orr. 2012

147 citations recorded by the source corpus.

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.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/19a3d6f4344af9caf0c7eea09bbc83cccefe88ee

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Citations in the corpus

• Targeting RNA foci in iPSC-derived motor neurons from ALS patients with C9ORF72 repeat expansion (2013, background): “In fragile X syndrome and Friedreich’s ataxia, large repeats in noncoding regions lead to gene silencing and loss of function (37, 38), whereas in many spinocerebellar ataxias (SCA) and Huntington’s disease, expansions in gene-coding regions predominantly lead to protein toxicity (39, 40).”