Genomes and Genes
Experts and Doctors on amyotrophic lateral sclerosis in Bethesda, Maryland, United States
Locale: Bethesda, Maryland, United States
Topic: amyotrophic lateral sclerosis
- Schymick J, Scholz S, Fung H, Britton A, Arepalli S, Gibbs J, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007;6:322-8 pubmed..We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified. ..
- Bowen R, Drake S, Vanjani R, Huey E, Grafman J, Horne M. Markedly increased vitamin B12 concentrations attributable to IgG-IgM-vitamin B12 immune complexes. Clin Chem. 2006;52:2107-14 pubmed
- Kryndushkin D, Wickner R, Shewmaker F. FUS/TLS forms cytoplasmic aggregates, inhibits cell growth and interacts with TDP-43 in a yeast model of amyotrophic lateral sclerosis. Protein Cell. 2011;2:223-36 pubmed publisher..Moreover, the biophysical properties of FUS aggregates in yeast are distinctly different from many amyloidogenic proteins, suggesting they are not composed of amyloid. ..
- Traynor B, Nalls M, Lai S, Gibbs R, Schymick J, Arepalli S, et al. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Proc Natl Acad Sci U S A. 2010;107:12335-8 pubmed publisher..47) or on gene expression in that region. These data illustrate the complexities associated with analyzing ALS phenotypes for association. ..
- Lin X, Shim H, Cai H. Deficiency in the ALS2 gene does not affect the motor neuron degeneration in SOD1(G93A) transgenic mice. Neurobiol Aging. 2007;28:1628-30 pubmed..Our data suggest that deficiency in the ALS2 gene does not affect the pathogenesis of SOD1(G93A) mice. ..
- Abramzon Y, Johnson J, Scholz S, Taylor J, Brunetti M, Calvo A, et al. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2012;33:2231.e1-2231.e6 pubmed publisher..Our data indicate that VCP mutations may underlie apparently sporadic ALS but account for <1% of this form of disease. ..
- Johnson J, Pioro E, Boehringer A, Chia R, Feit H, Renton A, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014;17:664-666 pubmed publisher..We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. ..
- Gershoni Emek N, Mazza A, Chein M, Gradus Pery T, Xiang X, Li K, et al. Proteomic Analysis of Dynein-Interacting Proteins in Amyotrophic Lateral Sclerosis Synaptosomes Reveals Alterations in the RNA-Binding Protein Staufen1. Mol Cell Proteomics. 2016;15:506-22 pubmed publisher..Taken together, we suggest a model in which dynein's interaction with Staufen1 regulates mRNA localization along the axon and the synapses, and alterations in this process may correlate with synapse disruption and ALS toxicity. ..
- Floeter M, Traynor B, Farren J, Braun L, Tierney M, Wiggs E, et al. Disease progression in C9orf72 mutation carriers. Neurology. 2017;89:234-241 pubmed publisher..Longitudinal changes in these measures occurred with disease progression in a manner consistent with presenting phenotype. ..
- Aliaga L, Lai C, Yu J, Chub N, Shim H, Sun L, et al. Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. Hum Mol Genet. 2013;22:4293-305 pubmed publisher..Therefore, these findings provide new pathophysiological mechanisms of P56S VAPB that differentially affect the function and survival of CSMNs and SMNs in ALS8. ..
- Kesavapany S, Patel V, Zheng Y, Pareek T, Bjelogrlic M, Albers W, et al. Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons. Mol Biol Cell. 2007;18:3645-55 pubmed
- Momeni P, Schymick J, Jain S, Cookson M, Cairns N, Greggio E, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006;6:44 pubmed..Confirmation of the pathogenicity of IFT74 sequence variants will require screening of other chromosome 9p-linked families. ..