Literature DB >> 11704932

A second leaky splice-site mutation in the spastin gene.

I K Svenson, A E Ashley-Koch, M A Pericak-Vance, D A Marchuk.   

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Year:  2001        PMID： 11704932      PMCID： PMC1235553          DOI： 10.1086/324593

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  3 in total

1.  Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Authors:  I K Svenson; A E Ashley-Koch; P C Gaskell; T J Riney; W J Cumming; H M Kingston; E L Hogan; R M Boustany; J M Vance; M A Nance; M A Pericak-Vance; D A Marchuk
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

2.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

Review 3.  Exon recognition in vertebrate splicing.

Authors:  S M Berget
Journal:  J Biol Chem       Date:  1995-02-10       Impact factor: 5.157
  3 in total
  9 in total

Review 1.  The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.

Authors:  Berish Y Rubin; Sylvia L Anderson
Journal:  Neuromolecular Med       Date:  2007-11-06       Impact factor: 3.843

Review 2.  Lysine acetylation in the lumen of the ER: a novel and essential function under the control of the UPR.

Authors:  Mariana Pehar; Luigi Puglielli
Journal:  Biochim Biophys Acta       Date:  2012-12-13

3.  Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Authors:  Ingrid K Svenson; Mark T Kloos; P Craig Gaskell; Martha A Nance; James Y Garbern; Shin-ichi Hisanaga; Margaret A Pericak-Vance; Allison E Ashley-Koch; Douglas A Marchuk
Journal:  Neurogenetics       Date:  2004-07-10       Impact factor: 2.660

4.  Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.

Authors:  Carl Julien; Alexandra Lissouba; Surya Madabattula; Yasmin Fardghassemi; Cory Rosenfelt; Alaura Androschuk; Joel Strautman; Clement Wong; Andrew Bysice; Julia O'sullivan; Guy A Rouleau; Pierre Drapeau; J Alex Parker; François V Bolduc
Journal:  Hum Mol Genet       Date:  2016-01-06       Impact factor: 6.150

5.  Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.

Authors:  Sonia Clavero; Belén Pérez; Ana Rincón; Magdalena Ugarte; Lourdes R Desviat
Journal:  Hum Genet       Date:  2004-07-02       Impact factor: 4.132

Review 6.  Genetics of motor neuron disorders: new insights into pathogenic mechanisms.

Authors:  Patrick A Dion; Hussein Daoud; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2009-10-13       Impact factor: 53.242

7.  A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.

Authors:  Carol J Gallione; Ann Solatycki; Issam A Awad; James L Weber; Douglas A Marchuk
Journal:  Genet Med       Date:  2011-07       Impact factor: 8.822

8.  The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.

Authors:  Chen Wang; Yun-Jian Zhang; Ci-Hao Xu; Zhi-Jun Liu; Yan Wu
Journal:  Mol Genet Genomic Med       Date:  2021-02-27       Impact factor: 2.183

9.  Spastin mutations impair coordination between lipid droplet dispersion and reticulum.

Authors:  Yoan Arribat; Dogan Grepper; Sylviane Lagarrigue; Timothy Qi; Sarah Cohen; Francesca Amati
Journal:  PLoS Genet       Date:  2020-04-21       Impact factor: 5.917
  9 in total

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