Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts

A. Kawata, S. Kato, T. Shimizu, H. Hayashi, S. Hirai, H. Misawa, R. Takahashi

研究成果: Article

9 引用 (Scopus)


Two abnormal SOD 1 mRNAs, exon 2-skipping and exon 2 and 3-skipping species, were identified from occipital brain tissue of sporadic amyotrophic lateral sclerosis (ALS) patients carrying no mutations in the SOD 1 gene. Both transcripts were ubiquitously expressed in non-neuronal as well as neuronal tissues from a subject without neurological diseases. The expression pattern did not show disease specificity or lesional selectivity associated with ALS. Transient expression studies revealed weak expression of the proteins derived from the exon 2-skipping SOD 1 cDNA in a cell-free translation system but not in cells. The putative abnormal SOD 1 protein may accumulate and exert toxic effects on motor neurons in ALS when the proteolytic system is disturbed by aging or some causal factors. (C) 2000 Lippincott Williams and Wilkins.

出版物ステータスPublished - 2000 8 21

ASJC Scopus subject areas

  • Neuroscience(all)

フィンガープリント Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

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    Kawata, A., Kato, S., Shimizu, T., Hayashi, H., Hirai, S., Misawa, H., & Takahashi, R. (2000). Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts. NeuroReport, 11(12), 2649-2653. https://doi.org/10.1097/00001756-200008210-00009