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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS. The work leading to these results has received funding from the European Community’s Health Seventh Framework Programme FP7/2007-2013 under grant agreement number 259867.
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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSMN1
Other namesSMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; T-BCD541
Gene namesurvival of motor neuron 1, telomeric
Gene inheritance categorySALS genes
CategoryALTERED DNA/RNA PROCESSING
Chromosome5q13.2
Genomic CoordinatesChr5:70220768-70248839 ( +)
BackgroundDeletions and mutations of SMN genes cause spinal muscular atrophy
ResultSMN genotypes which reduce SMN protein levels associated with sporadic ALS
Total Mutations0
Total Affected0

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ANIMAL MODELS

                               

KEY PUBLICATIONS (6)

First_AuthorYearTitlePaper
Corcia2002Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosisFull_Paper
Corcia2002SMN1 gene study in three families in which ALS and spinal muscular atrophy co-existFull_Paper
Corcia2006SMN1 gene, but not SMN2, is a risk factor for sporadic ALSFull_Paper
Veldink2001Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALSFull_Paper
Veldink2005SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALSFull_Paper
Zou2007SMN protects cells against mutant SOD1 toxicity by increasing chaperone activityFull_Paper
 
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