Genomes and Genes
Wendy J Broom
Affiliation: Massachusetts General Hospital
- Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypesWendy 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...
- Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicityWendy 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...
- Two approaches to drug discovery in SOD1-mediated ALSWendy 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...
- 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 ALSWendy 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...
- Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosisStephan 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...
- 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...