Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease.
Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease.
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分子质量控制机制导致慢性肉芽肿病中白细胞 NADPH 氧化酶缺乏。
DOI：
10.1016/s0925-4439(01)00106-5
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
Shieh,Chi-Chang
中科院分区：
文献类型：
--
作者：
Lin,Shio-Jean;Huang,Ya-Fang;Chen,Jing-Yi;Heyworth,PaulG;Noack,Deborah;Wang,Ji-Yao;Lin,Ching-Yuan;Chiang,Bor-Luen;Yang,Chin-Mu;Liu,Ching-Chuan;Shieh,Chi-Chang
Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by defects in leukocyte NADPH oxidase. Various inherited defects in one of the membrane-bound components of NADPH oxidase, gp91-phox, cause X-linked (X91) CGD. Analysis of three patients with X91 CGD revealed that different mechanisms of molecular quality control lead to the common phenotype of absence of mature membrane-bound NADPH oxidase complex in leukocytes. In the first patient, aberrant intron splicing created a premature stop codon. However, the mutant mRNA was degraded prematurely, which prevented the production of truncated protein. In the second patient, a frameshift mutation with the potential to generate a gp91-phox polypeptide, with an aberrant and elongated C-terminus, led to barely detectable levels of gp91-phox, even though the reported functional domains of the protein appeared unaffected. In the third patient, a point mutation created a single amino acid change in the predicted FAD-binding site of gp91-phox. Although gp91-phox was detectable with Western blotting, no cytochrome b558was expressed on the cell surface. These analyses showed that molecular quality control machinery plays an important role in the pathogenesis of CGD, not only in the X910but also in the X91−form of this X-linked disease.
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人类 NADPH 氧化酶 gp91-phox 编码基因的四个新突变：氧化酶组装的后果。
影响因子：
20.3
作者：
J. Leusen;C. Meischl;M. Eppink;P. Hilarius;M. de Boer;R. Weening;A. Åhlin;L. Sanders;D. Goldblatt;H. Skopczyńska;E. Bernatowska;J. Palmblad;A. Verhoeven;W. V. van Berkel;D. Roos
通讯作者：
D. Roos
p22-phox 缺陷型慢性肉芽肿病：通过逆转录病毒介导的表达进行重建并鉴定 gp91-phox 的生物合成中间体。
影响因子：
20.3
作者：
CD Porter;MH Parkar;AJ Verhoeven;RJ Levinsky;MK Collins;C. Kinnon
通讯作者：
C. Kinnon
黄细胞色素 b558 的生物合成。
DOI：
10.1074/jbc.274.7.4364
发表时间：
1999
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Yu,L;DeLeo,FR;Biberstine-Kinkade,KJ;Renee,J;Nauseef,WM;Dinauer,MC
通讯作者：
Dinauer,MC
与内质网中新合成和保留的蛋白质的相互作用表明人整合膜蛋白 IP90（钙连接蛋白）具有伴侣功能。
DOI：
10.1016/s0021-9258(18)98391-2
发表时间：
1993
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
V. David;F. Hochstenbach;S. Rajagopalan;M. Brenner
通讯作者：
M. Brenner
检测 X 连锁慢性肉芽肿病患者 B 细胞系中的 gp91-phox 前体蛋白，作为损害细胞色素 b558 生物合成的突变的指标。
DOI：
10.1042/bj3150571
发表时间：
1996
期刊：
The Biochemical journal
影响因子：
--
作者：
Colin D. Porter;Kuribayashi Kuribayashi;Mohamed H. Parkar;D. Roos;Christine Kinnon
通讯作者：
Christine Kinnon