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Elucidating the Mechanism of Gain of Toxic Function from Mutant C1 Inhibitor Proteins in Hereditary Angioedema.

机译：阐明突变型C1抑制蛋白在遗传性血管性水肿中毒性功能增强的机制。

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Zuraw, B.;
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年度 2016
页码 1-11
总页数 11
原文格式 PDF
正文语种 eng
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关键词
Inhibitors; Mutant proteins; Mutations; Hae (hereditary angioedema); C1 inhibitor; Serpin; Secretion; Aggregates; Misfolding; Wt c1inh protein; Gotf defects;

机译：抑制剂;突变蛋白;突变; Hae（遗传性血管神经性水肿）; C1抑制剂; serpin;分泌;聚集体;错误折叠; Wt c1inh蛋白; Gotf缺陷;

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专利

1. Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with a duplication in exon 8. [J] . Ernst SC, Circolo A, Davis AE 3rd, The Journal of Immunology: Official Journal of the American Association of Immunologists . 1996,第1期

机译：I型遗传性血管性水肿中正常和突变C1抑制剂蛋白的产生均受损，外显子8重复。
2. A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8 [J] . Bouhy Delphine, Juneja Manisha, Katona Istvan, Acta Neuropathologica . 2018,第1期

机译：Hspb8相关远端遗传性电动机神经病变和肌病的敲击/敲除小鼠模型揭示了突变体Hspb8的毒性功能
3. Identification of a new P1 residue mutation (444Arg→Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma [J] . Aulak K.S., Cicardi M., Harrison R.A. FEBS Letters . 1990,第1a2期

机译：识别II型遗传性血管性水肿血浆中功能异常的C1抑制剂蛋白中新的P1残基突变（444Arg→Ser）
4. Proteins Flexibility as a Criterion for Elucidation of Activating Mutants in Personalized Cancer Medicine [C] . Igor F. Tsigelny, Razelle Kurzrock, ?ge Aleksander Skjevik, International Conference on Simulation and Modeling Methodologies, Technologies and Applications . 2018

机译：蛋白质灵活性作为阐明个性化癌症药物激活突变体的标准
5. Elucidating Functional Mechanisms in Proteins Using the Distance Constraint Model [D] . Singer, Christopher. 2019

机译：利用距离约束模型阐明蛋白质中的功能机制
6. Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443--Val substitution and functional analysis of the recombinant mutant protein. [O] . R Zahedi, J J Bissler, A E Davis 3rd, 1995

机译：独特的C1抑制剂功能异常无血管性水肿。二。 Ala443- Val取代的鉴定和重组突变蛋白的功能分析。
7. Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. [O] . R Zahedi, J J Bissler, A E Davis, 1995

机译：独特的C1抑制剂功能障碍无血管内膜。 II。鉴定ALA443 - > Val替代和重组突变蛋白的功能分析。
8. Elucidating the Mechanism of Gain of Toxic Function From Mutant C1 Inhibitor Proteins in Hereditary Angioedema. [R] . Zuraw, B. 2017

机译：阐明遗传性血管性水肿中突变型C1抑制蛋白增强毒性功能的机制。

Elucidating the Mechanism of Gain of Toxic Function from Mutant C1 Inhibitor Proteins in Hereditary Angioedema.

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