Research Topics
Species | Daryl A BoscoSummaryAffiliation: University of Massachusetts Medical School Country: USA Publications
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Detail Information
Publications
Paraoxonase gene mutations in amyotrophic lateral sclerosisNicola Ticozzi
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Ann Neurol 68:102-7. 2010..We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function...- Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granulesDaryl A Bosco
Department of Neurology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655, USA
Hum Mol Genet 19:4160-75. 2010..These findings demonstrate a potential link between FUS mutations and cellular pathways involved in stress responses that may be relevant to altered motor neuron homeostasis in ALS... 
Genetic determinants of amyotrophic lateral sclerosis as therapeutic targetsDaryl A Bosco
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
CNS Neurol Disord Drug Targets 9:779-90. 2010..In this review, we present several of the genetic contributors to both sporadic and familial forms of ALS and discuss their potential as therapeutic targets for this devastating disease...- Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALSDaryl A Bosco
Department of Neurology, University of Massachusetts Medical Center, Worcester, Massachusetts, USA
Nat Neurosci 13:1396-403. 2010..Our findings suggest that wild-type SOD1 can be pathogenic in SALS and identify an SOD1-dependent pathogenic mechanism common to FALS and SALS... - Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi Hong Wu
Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
Nature 488:499-503. 2012..Furthermore, primary motor neurons expressing mutant PFN1 display smaller growth cones with a reduced F/G-actin ratio. These observations further document that cytoskeletal pathway alterations contribute to ALS pathogenesis... - Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosisMarka van Blitterswijk
Department of Neurology, University of Massachusetts Medical Center, Worcester, Massachusetts, USA
Amyotroph Lateral Scler 12:430-8. 2011..g. oxidized SOD1) in SALS pathogenesis. In contrast, an immune response against the normal WT-SOD1 appears to be disadvantageous in SALS, possibly because the anti-oxidizing activity of normal WT-SOD1 is beneficial to SALS individuals... - Proteostasis and movement disorders: Parkinson's disease and amyotrophic lateral sclerosisDaryl A Bosco
Department of Neurology, University of Massachusetts Medical Center, Worcester, Massachusetts 01655, USA
Cold Spring Harb Perspect Biol 3:a007500. 2011..Applying proteostasis approaches to this disease may require rethinking or broadening the concept of what proteostasis means...