Desmoglein as a target in skin disease and beyond.
Desmoglein as a target in skin disease and beyond.
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DOI：
10.1038/jid.2011.390
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发表时间：
2012-03
影响因子：
6.5
通讯作者：
Stanley, John R.
中科院分区：
文献类型：
--
作者：
Amagai, Masayuki;Stanley, John R.
许多关于桥粒及其生化成分的原始研究是通过分析皮肤和粘膜进行的。桥粒芯糖蛋白1和3，桥粒粘附糖蛋白，作为天疱疮，一种致命的自身免疫性皮肤和粘膜起泡疾病的目标的鉴定，提供了第一个桥粒，桥粒芯糖蛋白和人类疾病之间的联系。葡萄球菌烫伤样皮肤综合征或大疱性脓疱病和落叶型天疱疮的临床和组织学相似性使我们确定桥粒芯糖蛋白1为葡萄球菌脱落毒素的蛋白水解靶点。纹状掌跖角化病和低血糖症的遗传学分析确定了它们的致病基因分别为桥粒芯糖蛋白1和4。最近，皮肤生物学的这些基本发现被扩展到皮肤之外。桥粒芯糖蛋白2在发育中的桥粒芯糖蛋白的四种同种型中最早表达，并且在所有带有桥粒的上皮细胞中发现，发现其在致心律失常性右心室心肌病中突变，并且还被鉴定为引起呼吸道和泌尿道感染的腺病毒子集的受体。桥粒芯糖蛋白研究的故事阐明了皮肤病学研究如何最初集中在一种皮肤病天疱疮上，有助于理解许多看似无关的组织和疾病的生物学和病理生理学。
Much of the original research on desmosomes and their biochemical components was through analysis of skin and mucous membranes. The identification of desmogleins 1 and 3, desmosomal adhesion glycoproteins, as targets in pemphigus, a fatal autoimmune blistering disease of the skin and mucous membranes, provided the first link between desmosomes, desmogleins, and human diseases. The clinical and histological similarities of staphylococcal scalded skin syndrome or bullous impetigo and pemphigus foliaceus led us to identify desmoglein 1 as the proteolytic target of staphylococcal exfoliative toxins. Genetic analysis of striate palmoplantar keratoderma and hypotrichosis identified their responsible genes as desmogleins 1 and 4, respectively. More recently these fundamental findings in cutaneous biology were extended beyond the skin. Desmoglein 2, which is expressed earliest among the four isoforms of desmoglein in development and found in all desmosome-bearing epithelial cells, was found to be mutated in arrythmogenic right ventricular cardiomyopathy and has also been identified as a receptor for a subset of adenoviruses that cause respiratory and urinary tract infections. The story of desmoglein research illuminates how dermatologic research originally focused on one skin disease, pemphigus, has contributed to understanding biology and pathophysiology of many seemingly unrelated tissues and diseases.
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影响因子：
6.5
作者：
Amagai, M;Yamaguchi, T;Stanley, JR
通讯作者：
Stanley, JR
影响因子：
4.8
作者：
Delva, Emmanuella;Jennings, Jean Marie;Kowalczyk, Andrew P.
通讯作者：
Kowalczyk, Andrew P.
影响因子：
4.8
作者：
Berkowitz, P;Hu, PQ;Rubenstein, DS
通讯作者：
Rubenstein, DS
影响因子：
6.5
作者：
Amagai, M;Koch, PJ;Stanley, JR
通讯作者：
Stanley, JR
影响因子：
64.5
作者：
AMAGAI, M;KLAUSKOVTUN, V;STANLEY, JR
通讯作者：
STANLEY, JR