Ciccarelli, FD and Proukakis, C and Patel, H and Cross, H and Azam, S and Patton, MA and Bork, P and Crosby, AH (2003) The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. GENOMICS , 81 (4) 437 - 441. 10.1016/S0888-7543(03)00011-9.
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Multiple sequence alignment has revealed the presence of a sequence domain of similar to80 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. (C) 2003 Elsevier Science (USA). All rights reserved.
|Title:||The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia|
|Keywords:||MICROTUBULE DYNAMICS, PROTEIN TRAFFICKING, MAMMALIAN-CELLS, TRANSPORT, SMART, VPS4P|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Clinical Neuroscience|
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Neurosciences Unit
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