The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
TDP-43 in the Ubiquitin Pathology of Frontotemporal Dementia With VCP Gene Mutations
Open accessAbstract
Frontotemporal dementia with inclusion body myopathy and Paget disease of bone is a rare, autosomal-dominant disorder caused by mutations in the gene valosin-containing protein (VCP). The CNS pathology is characterized by a novel pattern of ubiquitin pathology distinct from sporadic and familial frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) without VCP mutations. TAR DNA binding protein 43 (TDP-43) was recently identified as a major disease protein in the ubiquitin-positive inclusions of sporadic and familial FTLD-U. To determine whether the ubiquitin pathology associated with mutations in VCP is characterized by the accumulation of TDP-43, we analyzed TDP-43 in the CNS pathology of five patients with VCP gene mutations. Accumulations of TDP-43 colocalized with ubiquitin pathology in inclusion body myopathy and Paget disease of bone, including both intranuclear inclusions and dystrophic neurites. Similar to FTLD-U, phosphorylated TDP-43 was detected only in insoluble brain extracts from affected brain regions. Identification of TDP-43, but not VCP, within ubiquitin-positive inclusions supports the hypothesis that VCP gene mutations lead to a dominant negative loss or alteration of VCP function culminating in impaired degradation of TDP-43. TDP-43 is a common pathologic substrate linking a variety of distinct patterns of FTLD-U pathology caused by different genetic alterations.
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Cites
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
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Self-citationMutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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Self-citationMutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., et al. (2005) · Nature Genetics · doi:10.1038/ng1609 · Cited by 822
Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs
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Self-citationFrontotemporal dementia: Clinicopathological correlations
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Self-citationMutant valosin‐containing protein causes a novel type of frontotemporal dementia
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Self-citationIdentification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration
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SVIP is a novel VCP/p97-interacting protein whose expression causes cell vacuolation
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Pathology of Neurodegenerative Diseases
Dugger, B. N., & Dickson, D. W. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028035 · Cited by 1,665
Cairns, N. J., Bigio, E. H., Mackenzie, I. R. A., Neumann, M., Lee, V. M.-Y., Hatanpaa, K. J., White, C. L., Schneider, J. A., Grinberg, L. T., Halliday, G., et al. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0237-2 · Cited by 1,110
Self-citationTDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq137 · Cited by 1,021
A harmonized classification system for FTLD-TDP pathology
Mackenzie, I. R. A., Neumann, M., Baborie, A., Sampathu, D. M., Du Plessis, D., Jaros, E., Perry, R. H., Trojanowski, J. Q., Mann, D. M. A., & Lee, V. M. Y. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0845-8 · Cited by 1,017
Self-citationMolecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis
Prasad, A., Bharathi, V., Sivalingam, V., Girdhar, A., & Patel, B. K. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00025 · Cited by 774
Metadata
- Authors
- Neumann, M., Mackenzie, I. R., Cairns, N. J., Boyer, P. J., Markesbery, W. R., Smith, C. D., Taylor, J. P., Kretzschmar, H. A., Kimonis, V. E., & Forman, M. S.
- Venue
- Journal of Neuropathology and Experimental Neurology
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-02
- Volume
- 66
- Issue
- 2
- Pages
- 152-157
- ISSN
- 0022-3069 (ISSN-L)
- OpenAlex
- W2051490456
- Cited by
- 334
- References
- 10
- FWCI
- 23.96
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Neumann, M., Mackenzie, I. R., Cairns, N. J., Boyer, P. J., Markesbery, W. R., Smith, C. D., Taylor, J. P., Kretzschmar, H. A., Kimonis, V. E., & Forman, M. S. (2007). TDP-43 in the Ubiquitin Pathology of Frontotemporal Dementia With VCP Gene Mutations. Journal of Neuropathology and Experimental Neurology. https://doi.org/10.1097/nen.0b013e31803020b9
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