Chaperone mutation in Tn syndrome

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Chaperone mutation in Tn syndrome

机译：Tn综合征的伴侣突变

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Tn syndrome is a rare autoimmune disease in which subpopulations of blood cells in all lineages carry an incompletely glycosylated membrane glycoprotein, known as the Tn antigen. This truncated antigen has the sugar N-acetyl-galactosamine a-linked toeither a serine or threonine amino-acid residue, whereas the correct T antigen has an additional terminal galactose; the defect maybe due to a malfunction of the glycosylating enzyme T-synthase. Here we show that Tn syndrome is associated with a somaticmutation in Cosmc, a gene on the X chromosome that encodes a molecular chaperone' that is required for the proper folding and hence full activity of T-synthase. The production of the autoimmune Tn antigen by a glycosyltransferase enzyme rendered defective by a disabled chaperone may have implications for other Tn-related disorders such as IgA nephropathy, a condition that can result in renal failure.

机译：Tn综合征是一种罕见的自身免疫疾病，其中所有谱系中的血细胞亚群携带不完全糖基化的膜糖蛋白，即Tn抗原。这种截短的抗原具有与丝氨酸或苏氨酸氨基酸残基相连的糖N-乙酰基-半乳糖胺，而正确的T抗原具有额外的末端半乳糖。缺陷可能是由于糖基化酶T合酶的功能异常所致。在这里，我们显示Tn综合征与Cosmc中的体细胞突变有关，Cosmc是X染色体上的一个基因，该基因编码分子伴侣，这是T-合酶正常折叠所必需的，因此具有完整的活性。由失能的伴侣伴有缺陷的糖基转移酶产生的自身免疫性Tn抗原可能对其他Tn相关疾病（如IgA肾病）有影响，这种疾病可能导致肾衰竭。

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《Nature》 |2005年第7063期|p.1252|共1页
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收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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正文语种 eng
中图分类自然科学总论;
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1. Analyses of traA, int-Tn, and xis-Tn mutations in the conjugative transposon Tn916 in Enterococcus faecalis. [J] . Jaworski DD, Flannagan SE, Clewell DB Plasmid: An International Journal Devoted to Extrachromosomal Gene Systems . 1996,第3期

机译：粪肠球菌共轭转座子Tn916中traA，int-Tn和xis-Tn突变的分析。
2. The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations [J] . Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Kidney International Reports . 2017,第4期

机译：化学伴侣，PBA，可减少男性X连锁综合征和错义突变的培养成纤维细胞中的内质网应激和自噬并增加胶原蛋白IVα5的表达
3. The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome [J] . Braun Doreen, Schweizer Ulrich Endocrinology . 2017,第3期

机译：化学伴侣苯基丁酯拯救了艾伦 - 育敦顿德利综合征患者患者中较高的MCT8突变。
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. A Structural Basis for Neuropathic Pain Syndromes Associated with Mutations in Nav1.7 [D] . Powell, Natasha Marie. 2020

机译：与NAV1.7中突变相关的神经病疼痛综合征的结构基础
6. Two Classes of Tn10 Transposase Mutants That Suppress Mutations in the Tn10 Terminal Inverted Repeat [O] . J. Sakai, N. Kleckner 1996

机译：抑制Tn10末端反向重复中的突变的两类Tn10转座酶突变体
7. Faculty Opinions recommendation of The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations. [O] . Michael Briggs 2020

机译：化学伴侣，PBA的教师意见推荐，降低ER应激和自噬，并增加患有X型血管综合征和畸形突变的培养成纤维细胞中的胶原IVα5表达。

Chaperone mutation in Tn syndrome

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