Literature DB >> 7870076

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.

C T Jones1, P J Shaw, G Chari, D J Brock.   

Abstract

We have been screening a cohort of 46 sporadic and 10 familial amyotrophic lateral sclerosis patients for mutations in the superoxide dismutase gene (SOD1) using a combination of SSCP and direct PCR sequencing. A novel missense mutation (Asp101Asn) has been detected in one sporadic patient and a previously reported mutation has been found in two familial cases.

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Year:  1994        PMID： 7870076     DOI： 10.1006/mcpr.1994.1046

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN： 0890-8508            Impact factor:   2.365


  12 in total

1.  SOD1 mutations targeting surface hydrogen bonds promote amyotrophic lateral sclerosis without reducing apo-state stability.

Authors:  Roberth Byström; Peter M Andersen; Gerhard Gröbner; Mikael Oliveberg
Journal:  J Biol Chem       Date:  2010-02-26       Impact factor: 5.157

2.  A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis.

Authors:  C Hayward; R J Swingler; S A Simpson; D J Brock
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

Review 3.  Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.

Authors:  A Radunovíc; P N Leigh
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-12       Impact factor: 10.154

Review 4.  Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.

Authors:  Sai V Seetharaman; Mercedes Prudencio; Celeste Karch; Stephen P Holloway; David R Borchelt; P John Hart
Journal:  Exp Biol Med (Maywood)       Date:  2009-07-13

5.  Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.

Authors:  C T Jones; R J Swingler; S A Simpson; D J Brock
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

Review 6.  Prospects for the pharmacotherapy of amyotrophic lateral sclerosis : old strategies and new paradigms for the third millennium.

Authors:  Barry W Festoff; Zhiming Suo; Bruce A Citron
Journal:  CNS Drugs       Date:  2003       Impact factor: 5.749

Review 7.  Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments.

Authors:  J de Belleroche; R Orrell; A King
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

8.  Familial aggregation of amyotrophic lateral sclerosis.

Authors:  Fang Fang; Freya Kamel; Paul Lichtenstein; Rino Bellocco; Pär Sparén; Dale P Sandler; Weimin Ye
Journal:  Ann Neurol       Date:  2009-07       Impact factor: 10.422

Review 9.  A fruitful endeavor: modeling ALS in the fruit fly.

Authors:  Ian Casci; Udai Bhan Pandey
Journal:  Brain Res       Date:  2014-10-05       Impact factor: 3.252

10.  Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Authors:  Laura E Cox; Laura Ferraiuolo; Emily F Goodall; Paul R Heath; Adrian Higginbottom; Heather Mortiboys; Hannah C Hollinger; Judith A Hartley; Alice Brockington; Christine E Burness; Karen E Morrison; Stephen B Wharton; Andrew J Grierson; Paul G Ince; Janine Kirby; Pamela J Shaw
Journal:  PLoS One       Date:  2010-03-24       Impact factor: 3.240
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