Capturing VCP: Another Molecular Piece in the ALS Jigsaw Puzzle

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19 Citations (Scopus)


TDP-43 mislocalization and aggregation are implicated in the pathogenesis of ALS and FTLD-U. Valosin containing protein (VCP) mutations also lead to TDP-43 deposition, resulting in Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). In this issue of Neuron, Johnson et al. used whole-exome capture to identify VCP mutations in familial ALS. 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.
Original languageEnglish
Pages (from-to)812 - 814
Number of pages3
Issue number5
Publication statusPublished - 9 Dec 2010


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