Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17

Daisuke Ito, Taishi Fujisawa, Hiroshi Iida, Norihiro Suzuki

研究成果: ジャーナルへの寄稿記事

57 引用 (Scopus)

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Seipin, which is encoded by the BSCL2 gene, is a glycoprotein of unknown biochemical function that is associated with dominant hereditary motor neuron diseases. Mutations in the N-glycosylation site of seipin are associated with the disease states and result in accumulation of unfolded protein in the endoplasmic reticulum (ER), leading to the unfolded protein response (UPR) and cell death, suggesting that these diseases are tightly associated with ER stress. Here, we determined the subcellular localization, functional domains, and distribution of seipin in tissues. Our studies show that the transmembrane domains in seipin are critical for ER retention, ubiquitination, formation of inclusions, and activation of UPR. Using immunohistochemistry, seipin expression is detected in neurons in the spinal cord and in the frontal lobe cortex of the brain. The present study provides new insights into the biology of seipin protein that should help our understanding of the pathogenesis of seipin-related diseases.

元の言語英語
ページ(範囲)266-277
ページ数12
ジャーナルNeurobiology of Disease
31
発行部数2
DOI
出版物ステータス出版済み - 8 1 2008

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All Science Journal Classification (ASJC) codes

  • Neurology

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