Degradation of two novel congenital TTP ADAMTS13 mutants by the cell proteasome prevents ADAMTS13 secretion
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- 作者：Mary Underwooda ; b ; 1 ; m.underwood@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author ; Flora Peyvandia ; b ; c ; Isabella Garagiolac ; Samuel Machina ; Ian Mackiea
- 关键词：ADAMTS13 ; Von Willebrand factor-cleaving protease ; Thrombotic thrombocytopenic purpura ; Mutation ; Congenital ; Proteasome
- 刊名：Thrombosis Research
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：147
- 期：Complete
- 页码：16-23
- 全文大小：870 K
文摘
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Relations exist between the ADAMTS13 gene and congenital TTP phenotype.
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We studied the novel p.I143T and p.Y570C congenital ADAMTS13 mutants.
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Both severely impaired ADAMTS13 secretion and activity mirroring plasma levels.
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Both mutants were degraded within the cell by the cell proteasome.