SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat

Article Abstract:

Transgenic mice homozygous for a spinocerebellar ataxia type 1 (SCA1) gene containing an expanded CAG trinucleotide repeat show degeneration of the cerebellar cortex Purkinjie cells and develop ataxia. Mice containing a normal SCA1 gene do not develop ataxia. Mice heterozygous for the CAG repeat do not develop ataxia, although a small amount of Purkinjie cells degenerate. Thus the phenotype of ataxia is seen only if a sufficient number of Purkinjie cells degenerate. The CAG trinucleotide repeat is present in the coding region of SCA1 gene.

Causes of, Observations, Friedreich's ataxia

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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

Article Abstract:

A study was undertaken to determine the localization of ataxin-1 at the nucleus of Purkinje cells in spinocerebellar ataxia type 1 (SCA1) transgenic mice. It was hypothesized that the incidence of nuclear changes correlated with the expression of ataxin-1 in the polyglutamine tract suggest that the main site of pathogenesis is nuclear. Results revealed that ataxin-1 had a functional nuclear localization signaling capability and nuclear localization of ataxin was needed in the pathogenesis of the Purkinje cell.

Research, Cerebellar ataxia, Diseases, Purkinje cells

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RNA targets of the fragile X protein

Article Abstract:

The genetics and inheritance of fragile X syndrome, associated with neurodegeneration, is discussed. Research findings demonstrate the importance of neuronal protein synthesis in determining synaptogenesis and the development of cognitive capabilities. Data indicate that fragile X mental retardation gene encoded protein FMRP exhibits two types of RNA binding motifs.

United States, Genetic aspects, Proteins, Protein synthesis, Neurons, Fragile X syndrome, Cognition disorders, Cognitive disorders

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