Capturing VCP: Another Molecular Piece in the ALS Jigsaw Puzzle

TY - JOUR

T1 - Capturing VCP: Another Molecular Piece in the ALS Jigsaw Puzzle

AU - Shaw, Christopher E.

PY - 2010/12/9

Y1 - 2010/12/9

N2 - 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.

AB - 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.

U2 - 10.1016/j.neuron.2010.11.040

DO - 10.1016/j.neuron.2010.11.040

M3 - Editorial

VL - 68

SP - 812

EP - 814

JO - Neuron

JF - Neuron

IS - 5

ER -