Comment
doi: 10.1016/j.neuron.2010.11.040.
Capturing VCP: another molecular piece in the ALS jigsaw puzzle
Affiliations
- PMID: 21144996
- DOI: 10.1016/j.neuron.2010.11.040
Item in Clipboard
Comment
Capturing VCP: another molecular piece in the ALS jigsaw puzzle
Neuron.
.
Free article
Abstract
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.
Copyright © 2010 Elsevier Inc. All rights reserved.
Comment on
-
Exome sequencing reveals VCP mutations as a cause of familial ALS.Neuron. 2010 Dec 9;68(5):857-64. doi: 10.1016/j.neuron.2010.11.036. Neuron. 2010. PMID: 21145000 Free PMC article.
Similar articles
-
Exome sequencing reveals VCP mutations as a cause of familial ALS.Neuron. 2010 Dec 9;68(5):857-64. doi: 10.1016/j.neuron.2010.11.036. Neuron. 2010. PMID: 21145000 Free PMC article.
-
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.J Neuropathol Exp Neurol. 2007 Feb;66(2):152-7. doi: 10.1097/nen.0b013e31803020b9. J Neuropathol Exp Neurol. 2007. PMID: 17279000
-
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant.Acta Neuropathol Commun. 2014 Dec 10;2:172. doi: 10.1186/s40478-014-0172-0. Acta Neuropathol Commun. 2014. PMID: 25492614 Free PMC article.
-
ALS and FTLD: two faces of TDP-43 proteinopathy.Eur J Neurol. 2008 Aug;15(8):772-80. doi: 10.1111/j.1468-1331.2008.02195.x. Eur J Neurol. 2008. PMID: 18684309 Free PMC article. Review.
-
Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis.Curr Alzheimer Res. 2011 May;8(3):252-60. doi: 10.2174/156720511795563773. Curr Alzheimer Res. 2011. PMID: 21222596 Free PMC article. Review.
Cited by
-
Emerging Evidence Highlighting the Importance of Redox Dysregulation in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS).Front Cell Neurosci. 2021 Feb 18;14:581950. doi: 10.3389/fncel.2020.581950. eCollection 2020. Front Cell Neurosci. 2021. PMID: 33679322 Free PMC article.
-
Absence of aquaporin-4 in skeletal muscle alters proteins involved in bioenergetic pathways and calcium handling.PLoS One. 2011 Apr 28;6(4):e19225. doi: 10.1371/journal.pone.0019225. PLoS One. 2011. PMID: 21552523 Free PMC article.
-
A Systematic Review of Suggested Molecular Strata, Biomarkers and Their Tissue Sources in ALS.Front Neurol. 2019 May 14;10:400. doi: 10.3389/fneur.2019.00400. eCollection 2019. Front Neurol. 2019. PMID: 31139131 Free PMC article. Review.
-
Frontotemporal dementia: implications for understanding Alzheimer disease.Cold Spring Harb Perspect Med. 2012 Feb;2(2):a006254. doi: 10.1101/cshperspect.a006254. Cold Spring Harb Perspect Med. 2012. PMID: 22355793 Free PMC article. Review.
-
Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system.Nat Cell Biol. 2012 Feb 2;14(2):117-23. doi: 10.1038/ncb2407. Nat Cell Biol. 2012. PMID: 22298039 Review.
Publication types
Grants and funding
LinkOut - more resources
Full Text Sources
Miscellaneous
