Literature DB >> 12499504

SPG3A: An additional family carrying a new atlastin mutation.

A Tessa1, C Casali, M Damiano, C Bruno, D Fortini, C Patrono, F Cricchi, M Valoppi, G Nappi, G A Amabile, E Bertini, F M Santorelli.   

Abstract

The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role. By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12499504     DOI： 10.1212/01.wnl.0000036902.21438.98

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  15 in total

1.  The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Authors:  Valentina Scarano; Pietro Mancini; Chiara Criscuolo; Giuseppe De Michele; Carlo Rinaldi; Tecla Tucci; Alessandra Tessa; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Alessandro Filla
Journal:  J Neurol       Date:  2005-03-08       Impact factor: 4.849

2.  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

3.  Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.

Authors:  Xin Bian; Robin W Klemm; Tina Y Liu; Miao Zhang; Sha Sun; Xuewu Sui; Xinqi Liu; Tom A Rapoport; Junjie Hu
Journal:  Proc Natl Acad Sci U S A       Date:  2011-02-22       Impact factor: 11.205

4.  Lipid interaction of the C terminus and association of the transmembrane segments facilitate atlastin-mediated homotypic endoplasmic reticulum fusion.

Authors:  Tina Y Liu; Xin Bian; Sha Sun; Xiaoyu Hu; Robin W Klemm; William A Prinz; Tom A Rapoport; Junjie Hu
Journal:  Proc Natl Acad Sci U S A       Date:  2012-07-16       Impact factor: 11.205

5.  The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

Authors:  Emmanuel J Botzolakis; Jiali Zhao; Katharine N Gurba; Robert L Macdonald; Peter Hedera
Journal:  Mol Cell Neurosci       Date:  2010-09-21       Impact factor: 4.314

6.  Three novel mutations in 20 patients with hereditary spastic paraparesis.

Authors:  Mehmet Bugrahan Duz; Selcuk Dasdemir; Aysel Kalayci Yigin; Mehmet Ali Akalin; Mehmet Seven
Journal:  Neurol Sci       Date:  2018-06-16       Impact factor: 3.307

7.  Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Authors:  Roger L Albin; Robert A Koeppe; Shirley Rainier; John K Fink
Journal:  J Neurogenet       Date:  2008       Impact factor: 1.250

8.  Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

Authors:  Marcia A Blair; Shaochun Ma; Peter Hedera
Journal:  Neurogenetics       Date:  2006-02-18       Impact factor: 2.660

9.  ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.

Authors:  S T de Bot; J H Veldink; S Vermeer; A R Mensenkamp; F Brugman; H Scheffer; L H van den Berg; H P H Kremer; E J Kamsteeg; B P van de Warrenburg
Journal:  J Neurol       Date:  2012-10-30       Impact factor: 4.849

Review 10.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.