Christopher E Shaw
Affiliation: King's College London
Shaw C. Capturing VCP: another molecular piece in the ALS jigsaw puzzle. Neuron. 2010;68:812-4 pubmed publisher
..This extends the VCP phenotype to include motor neuron degeneration and provides another molecular tool to explore neurodegeneration disease mechanisms underlying the TDP-43 proteinopathies. ..
Lee Y, Chen H, Peres J, Gomez Deza J, Attig J, Stalekar M, et al
. Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep. 2013;5:1178-86 pubmed publisher
..We show that expanded G4C2 repeats are potently neurotoxic and bind hnRNP-H and other RNA binding proteins. We propose that RNA toxicity and protein sequestration may disrupt RNA processing and contribute to neurodegeneration. ..
Smith B, Vance C, Scotter E, Troakes C, Wong C, Topp S, et al
. Novel mutations support a role for Profilin 1 in the pathogenesis of ALS. Neurobiol Aging. 2015;36:1602.e17-27 pubmed publisher
..Our findings show that PFN1 is a rare cause of ALS and adds further weight to the underlying genetic heterogeneity of this disease. ..
Gomez Deza J, Lee Y, Troakes C, Nolan M, Al Sarraj S, Gallo J, et al
. Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration. Acta Neuropathol Commun. 2015;3:38 pubmed publisher
..The near absence of DPR inclusions in spinal cord motor neurons challenges their contribution to lower motor neuron degeneration in ALS-C9+ve cases. ..
Mitchell J, Constable R, So E, Vance C, Scotter E, Glover L, et al
. Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS. Acta Neuropathol Commun. 2015;3:36 pubmed publisher
..The exploration of disease mechanisms in slow and rapid disease models of TDP-43 proteinopathy will help elucidate novel drug targets and provide a more informative platform for preclinical trials. ..