SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in AsiaW J Broom
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, 114 16th Street, Navy Yard, Charlestown, MA 02129, USA
Neurosci Lett 430:241-5. 2008
..The conserved minimal haplotype is statistically more similar to Asian than European population DNA sets, suggesting that the A4V mutation arose in native Asian-Americans who reached the Americas through the Bering Strait...
50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosisWendy J Broom
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
Amyotroph Lateral Scler 9:229-37. 2008
..Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations...
- DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS
Wendy J Broom
Massachusetts General Hospital, 114 16th Street, Navy Yard, Charlestown, MA 02129, USA
Neurosci Lett 463:64-9. 2009
..This study disproves the hypothesis that there is a tightly linked genetic protective factor specifically located close to the SOD1 gene in SOD1(D90A) mediated ALS...
- Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes
Wendy J Broom
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, 114 16th Street, Navy Yard, Charlestown, 02129, USA
Neurosci Lett 392:52-7. 2006
..We conclude that mutations within coding regions of genes around the SOD1 locus are not responsible for the more aggressive and more benign natures of the SOD1(A4V) and SOD1(D90A/D90A) mutations, respectively...
- Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis
Stephan Niemann
Cecil B Day Laboratory for Neuromuscular Research, Harvard Medical School, Mass General Institute for Neurodegenerative Disease, Massachusetts General Hospital East, Building 114, 16th Street, Charlestown, Massachusetts 02129, USA
Muscle Nerve 36:704-7. 2007
..Our data suggest that this TATA box defect is not a disease-causing mutation or susceptibility factor for ALS but rather a rare polymorphism with a potential effect on SOD1 gene expression...
- Two approaches to drug discovery in SOD1-mediated ALS
Wendy J Broom
Day Neuromuscular Research Laboratory, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Charlestown, MA 02129, USA
J Biomol Screen 11:729-35. 2006
..Ultimately, the authors believe that these 2 cell-based assays will provide powerful strategies to identify novel therapies for the treatment of inherited SOD1-associated forms of ALS...
- Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicity
Wendy J Broom
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, MGH East, 114 16th Street, Navy Yard, Charlestown, MA 02129, USA
Neurosci Lett 393:184-8. 2006
..Our data indicate the apparent inhibition of SOD1 expression by MC is a non-specific consequence of MC-induced cellular toxicity...
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosisJohn E Landers
Cecil B Day Neuromuscular Research Laboratory, Massachusetts General Hospital East, Building 114, Navy Yard, Charlestown, MA 02129, USA
Proc Natl Acad Sci U S A 106:9004-9. 2009
..These findings support the view that genetic factors modify phenotypes in this disease and that cellular motor proteins are determinants of motor neuron viability...
- No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS
W J Broom
Department of Neurology, Institute of Psychiatry, De Crespigny Park, London, UK
Neurology 63:2419-22. 2004
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