Literature DB >> 16339213

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

Christopher M Sanderson1, James W Connell, Thomas L Edwards, Nicholas A Bright, Simon Duley, Amanda Thompson, J Paul Luzio, Evan Reid.   

Abstract

The pure hereditary spastic paraplegias (HSPs) are a group of conditions in which there is a progressive length-dependent degeneration of the distal ends of the corticospinal tract axons, resulting in spastic paralysis of the legs. Pure HSPs are most frequently inherited in an autosomal-dominant pattern and are commonly caused by mutations either in the SPG4 gene spastin or in the SPG3A gene atlastin. To identify binding partners for spastin, we carried out a yeast two-hybrid screen on a brain cDNA library, using spastin as bait. Remarkably, nearly all of the positive interacting prey clones coded for atlastin. We have verified the physiological relevance of this interaction using co-immunoprecipitation, glutathione S-transferase pull-down and intracellular co-localization experiments. We show that the spastin domain required for binding to atlastin lies within the N-terminal 80 residues of the protein, a region that is only present in the predominantly cytoplasmic, full-length spastin isoform. These data suggest that spastin and atlastin function in the same biochemical pathway and that it is the cytoplasmic function of spastin which is important for the pathogenesis of HSP. They also provide further evidence for a physiological and pathological role of spastin in membrane dynamics.

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Year:  2005        PMID: 16339213      PMCID: PMC2443951          DOI: 10.1093/hmg/ddi447

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  40 in total

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4.  Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension.

Authors:  R M Horton; H D Hunt; S N Ho; J K Pullen; L R Pease
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5.  Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

Authors:  J M Polo; J Calleja; O Combarros; J Berciano
Journal:  Brain       Date:  1991-04       Impact factor: 13.501

6.  Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

Authors:  Peter Hedera; Gerald M Fenichel; Marcia Blair; Jonathan L Haines
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7.  Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Authors:  S M Sauter; W Engel; L M Neumann; J Kunze; J Neesen
Journal:  Hum Mutat       Date:  2004-01       Impact factor: 4.878

Review 8.  Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.

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9.  Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.

Authors:  Alessia Errico; Pamela Claudiani; Marilena D'Addio; Elena I Rugarli
Journal:  Hum Mol Genet       Date:  2004-07-21       Impact factor: 6.150

10.  The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.

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Journal:  Curr Biol       Date:  2004-07-13       Impact factor: 10.834

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  72 in total

Review 1.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

2.  A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.

Authors:  Masaru Matsui; Toshitaka Kawarai; Yoshiki Hase; Hidekazu Tomimoto; Kazumi Iseki; Ekaterina Rogaeva; Antonio Orlacchio; Giorgio Bernardi; Peter St George-Hyslop; Ryosuke Takahashi; Makoto Matsui
Journal:  J Neurol       Date:  2007-03-22       Impact factor: 4.849

Review 3.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

Review 4.  Microtubule-severing enzymes at the cutting edge.

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5.  Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.

Authors:  Katia Evans; Christian Keller; Karen Pavur; Kristen Glasgow; Bryan Conn; Brett Lauring
Journal:  Proc Natl Acad Sci U S A       Date:  2006-06-30       Impact factor: 11.205

6.  Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

Authors:  Antonio Orlacchio; Pasqua Montieri; Carla Babalini; Fabrizio Gaudiello; Giorgio Bernardi; Toshitaka Kawarai
Journal:  J Neurol       Date:  2011-02-19       Impact factor: 4.849

7.  Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A.

Authors:  Laura J Byrnes; Holger Sondermann
Journal:  Proc Natl Acad Sci U S A       Date:  2011-01-10       Impact factor: 11.205

8.  The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.

Authors:  Hilda T H Tsang; Thomas L Edwards; Xinnan Wang; James W Connell; Rachel J Davies; Hannah J Durrington; Cahir J O'Kane; J Paul Luzio; Evan Reid
Journal:  Hum Mol Genet       Date:  2009-07-20       Impact factor: 6.150

9.  Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.

Authors:  James W Connell; Catherine Lindon; J Paul Luzio; Evan Reid
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10.  Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.

Authors:  Thomas L Edwards; Virginia E Clowes; Hilda T H Tsang; James W Connell; Christopher M Sanderson; J Paul Luzio; Evan Reid
Journal:  Biochem J       Date:  2009-09-14       Impact factor: 3.857

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