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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; (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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Abstract

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.

Type: Article
Title: The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
DOI: 10.1016/S0888-7543(03)00011-9
Keywords: MICROTUBULE DYNAMICS, PROTEIN TRAFFICKING, MAMMALIAN-CELLS, TRANSPORT, SMART, VPS4P
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/136766
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