The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Ciccarelli FD; Proukakis C; Patel H; Cross H; Azam S; Patton MA; Bork P; Crosby AH

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The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

机译：鉴定在斯巴丁和spastin中均保守的结构域，在遗传性痉挛性截瘫中突变。

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Multiple sequence alignment has revealed the presence of a sequence domain of approximately 80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia. The domain, which corresponds to a slightly extended version of the recently described ESP domain of unknown function, was also identified in VPS4, SKD1, RPK118, and SNX15, all of which have a well established and consistent role in endosomal trafficking. Recent functional information indicates that spastin is likely to be involved in microtubule interaction. With this new information relating to its likely function, we propose the more descriptive name 'MIT' (contained within microtubule-interacting and trafficking molecules) for the domain and predict endosomal trafficking as the principal functionality of all molecules in which it is present.

机译：多个序列比对已揭示在遗传性痉挛性截瘫中突变的两个分子，即斯巴丁和斯帕斯汀中存在约80个氨基酸的序列结构域。在VPS4，SKD1，RPK118和SNX15中也鉴定了该域，该域对应于最近描述的功能未知的ESP域的稍微扩展的版本，所有这些域在内体运输中均具有公认的作用。最新的功能信息表明，spastin可能参与了微管相互作用。利用有关其可能功能的新信息，我们为该结构域提议了更具描述性的名称“ MIT”（包含在微管相互作用和运输分子中），并预测内体运输是其所存在的所有分子的主要功能。

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来源
《Genomics》 |2003年第4期|共5页
作者
Ciccarelli FD; Proukakis C; Patel H; Cross H; Azam S; Patton MA; Bork P; Crosby AH;
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正文语种 eng
中图分类遗传学;
关键词
spastin; trafficking; Spastic Paraplegia; physiological aspects; Microtubules; 微管;

机译：痉挛;贩运;痉挛性截瘫;生理学方面;微管;微管;

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1. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. [J] . Ciccarelli FD, Proukakis C, Patel H, Genomics . 2003,第4期

机译：鉴定在斯巴丁和spastin中均保守的结构域，在遗传性痉挛性截瘫中突变。
2. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling [J] . Hilda T.H. Tsang12 Thomas L. Edwards12 Xinnan Wang3† James W. Connell12 Rachel J. Davies4 Hannah J. Durrington4 Cahir J. OKane3 J. Paul Luzio15 and Evan Reid12* Human Molecular Genetics . 2009,第20期

机译：遗传性痉挛性截瘫蛋白NIPA1，spastin和spartin是哺乳动物BMP信号传导的抑制剂
3. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. [J] . McCorquodale DS 3rd, Ozomaro U, Huang J, Clinical Genetics: An International Journal of Genetics in Medicine . 2011,第6期

机译：遗传性痉挛性截瘫的spastin，astlastin和REEP1突变筛查。
4. DEFECTS IN THE ATP2B2 GENE CAUSING HEREDITARY HEARING AND BALANCE LOSS IN MICE AND HUMANS:A BIOPHYSICAL STUDY OF NORMAL AND MUTATED PMCA2 PUMP FUNCTION [C] . MARIO BORTOLOZZI NATO Advanced Study Institute on Biophotonics: Spectroscopy, Imaging, Sensing, and Manipulation . 2011

机译：ATP2B2基因的缺陷导致遗传性听力和小鼠和人类的失利：正常和突变PMCA2泵功能的生物物理研究
5. Development and Manipulation of a Drosophila Model for Toxic Effects of Mutated M1 Spastin in Hereditary Spastic Paraplegia Treatment [D] . Yiantsos, Ioanna. 2019

机译：果蝇突变M1 Spastin在遗传性痉挛性截瘫治疗中毒性作用的果蝇模型的开发和操纵。
6. The hereditary spastic paraplegia proteins NIPA1 spastin and spartin are inhibitors of mammalian BMP signalling [O] . Hilda T.H. Tsang, Thomas L. Edwards, Xinnan Wang, -1

机译：遗传性痉挛性截瘫蛋白NIPA1spastin和spartin是哺乳动物BMP信号传导的抑制剂
7. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling [O] . Tsang, Hilda T.H., Edwards, Thomas L., Wang, Xinnan, 2009

机译：遗传性痉挛性截瘫蛋白NIPA1，spastin和spartin是哺乳动物BMP信号传导的抑制剂

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

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