Insights into possible skeletal muscle nicotinic acetylcholine receptor (AChR) changes in some congenital myasthenias from physiological studies, point mutations, and subunit substitutions of the AChR.
Insights into possible skeletal muscle nicotinic acetylcholine receptor (AChR) changes in some congenital myasthenias from physiological studies, point mutations, and subunit substitutions of the AChR.
复制标题
通过生理学研究、点突变和 AChR 亚基替换，深入了解某些先天性肌无力中骨骼肌烟碱乙酰胆碱受体 (AChR) 可能发生的变化。
DOI：
10.1111/j.1749-6632.1993.tb22928.x
复制
发表时间：
1993
影响因子：
5.2
通讯作者：
Ruff,RL
中科院分区：
文献类型：
--
作者：
Kaminski,HJ;Ruff,RL
乙酰胆碱受体是一种膜结合的变构糖蛋白。AChR是由四个亚基组成的五聚体。在哺乳动物中，已知该通道以至少两种亚型存在。AChR的成熟或“受神经支配”形式由两个α-亚基和β-、β-和β-亚基中的每一个的一个拷贝组成。胎儿或“去神经”形式的AChR具有γ-亚基代替α-亚基。将与特定亚基相关的cDNA注射到非洲爪蟾卵母细胞中的研究表明，如果省略a-，p-或&亚基，则几乎没有产生任何功能通道，这表明a-，p-，6-和y-或E-亚基是形成功能通道所必需的。“812 AChR在神经元接触之前聚集成簇。神经突生长锥和肌纤维之间的接触似乎增强了AChR在A附近的聚集。这项工作得到了退伍军人事务部和国立卫生研究院赠款NS 26661和EY 09186的Merit Reviewed Funding的支持。询问罗伯特·L。拉夫，医学博士，哲学博士，神经科127（W），退伍军人事务部医疗中心，10701东大道，克利夫兰，OH
The AChR is a membrane-bound allosteric glycoprotein. The AChR is a pentamer composed of four subunit^.^-^ In mammals the channel is know to exist in at least two isoforms. The mature or “innervated” form of the AChR is composed of two a-subunits and one copy of each of the/3-, 8-, and~-subunits.~~~-~ The fetal or “denervated” form of the AChR has a y-subunit in place of the &-subunit. Studies in which cDNA associated with specific subunits was injected into Xenopus oocytes indicated that few if any functional channels were produced if the a-, p-, or &subunit was omitted, which suggests that a-, p-, 6-, and y-or E-subunits are necessary to form functional channels Muscle fibers express AChRs before there is any contact between motor axons and the muscle fibers.“8l2 AChRs collect into clusters prior to neuronal contact. Contact between a neurite growth cone and a muscle fiber appears to enhance AChR clustering in the vicinity of a This work was supported by Merit Reviewed Funding from the Department of Veterans Affairs, and National Institutes of Health Grants NS26661 and EY09186. Address inquiries to Robert L. Ruff, MD, Ph. D., Department of Neurology 127 (W), Department of Veterans Affairs Medical Center, 10701 East Boulevard, Cleveland, OH