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• W2795126759 abstract "(Neuron 68, 857-864; December 9, 2010) In the Discussion section, it is erroneously stated that the vacuolar protein sorting 54 protein (the gene responsible for motor neuron degeneration in the wobbler mouse) is the mouse homolog of the human valosin-containing protein. VCP and VPS54 are not structurally or functionally homologous. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALSJohnson et al.NeuronDecember 09, 2010In BriefUsing exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. Full-Text PDF Open Archive" @default.
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• W2795126759 date "2011-01-01" @default.
• W2795126759 modified "2023-10-18" @default.
• W2795126759 title "Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS" @default.
• W2795126759 doi "https://doi.org/10.1016/j.neuron.2011.01.009" @default.
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