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Mutant valosin‐containing protein causes a novel type of frontotemporal dementia
Open accessAbstract
Mutations in the valosin‐containing protein (VCP) gene on chromosome 9p13‐p12 recently have been shown to cause autosomal dominant inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia. Here, we report the central nervous system autopsy findings in a 55‐year‐old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N‐terminal CDC48 domain of VCP, which is involved in ubiquitin binding. We demonstrate that mutant VCP causes a novel type of frontotemporal dementia characterized by neuronal nuclear inclusions containing ubiquitin and VCP. Ann Neurol 2005;57:457–461
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“Histopathological analyses consistently illustrate TARDBP, ubiquitin and SQSTM1-positive inclusions in VCP-related diseases [244–247].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [247]
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Cites
Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics · doi:10.1038/ng1332 · Cited by 1,391
Self-citationDemonstration of amyloid deposits and neurofibrillary changes in whole brain sections
Braak, H., & Braak, E. (1991) · Brain Pathology · doi:10.1111/j.1750-3639.1991.tb00661.x · Cited by 598
Rabinovich, E., Kerem, A., Fröhlich, K., Diamant, N., & Bar‐Nun, S. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.2.626-634.2002 · Cited by 546
Monoclonal antibody PHF‐1 recognizes tau protein phosphorylated at serine residues 396 and 404
Otvos, L., Feiner, L., Lang, E., Szendrei, G. I., Goedert, M., & Lee, V. M. (1994) · Journal of Neuroscience Research · doi:10.1002/jnr.490390607 · Cited by 488
Meyer, H. H., Shorter, J., Seemann, J., Pappin, D., & Warren, G. (2000) · The EMBO Journal · doi:10.1093/emboj/19.10.2181 · Cited by 446
Dai, R. M., & Li, C.-C. H. (2001) · Nature Cell Biology · doi:10.1038/35087056 · Cited by 442
p47 is a cofactor for p97-mediated membrane fusion
Kondo, H., Rabouille, C., Newman, R., Levine, T. P., Pappin, D., Freemont, P. S., & Warren, G. (1997) · Nature · doi:10.1038/40411 · Cited by 437
Dai, R., Chen, E., Longo, D. L., Gorbea, C. M., & Li, C.-C. H. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.6.3562 · Cited by 315
Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly
Hetzer, M. W., Meyer, H. H., Walther, T. C., Bilbao, D., Warren, G., & Mattaj, I. W. (2001) · Nature Cell Biology · doi:10.1038/ncb1201-1086 · Cited by 311
Jicha, G. A., Lane, E., Vincent, I. J., Ötvös, L., Hoffmann, R., & Davies, P. (1997) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1997.69052087.x · Cited by 264
Hirabayashi, M., Inoue, K., Tanaka, K., Nakadate, K., Ohsawa, Y., Kamei, Y., Popiel, A. H., Shinohara, A., Iwamatsu, A., Kimura, Y., et al. (2001) · Cell Death and Differentiation · doi:10.1038/sj.cdd.4400907 · Cited by 258
Rabouille, C., Kondo, H., Newman, R., Hui, N., Freemont, P. S., & Warren, G. (1998) · Cell · doi:10.1016/s0092-8674(00)81128-9 · Cited by 256
Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders
Cochran, E. J. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.2.182 · Cited by 214
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22
Rosso, S. M. (2001) · Brain · doi:10.1093/brain/124.10.1948 · Cited by 158
Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions
Woulfe, J., KERTESZ, A. E., & Muñoz, D. G. (2001) · Acta Neuropathologica · doi:10.1007/s004010000346 · Cited by 96
Brizzee, K. R., Cancilla, P. A., Sherwood, N. M., & Timiras, P. S. (1969) · Journal of Gerontology · doi:10.1093/geronj/24.2.127 · Cited by 64
Lie, A. A., Schröder, R., Blümcke, I., Magin, T. M., Wiestler, O. D., & Elger, C. E. (1998) · Acta Neuropathologica · doi:10.1007/s004010050885 · Cited by 33
Self-citationTau antigenic changes induced by glutamate in rat primary culture model: a biochemical approach.
Sautiére, P., Sindou, P., Couratier, P., Hugon, J., Wattez, A., & Delacourte, A. (1992) · Neuroscience Letters · doi:10.1016/0304-3940(92)90104-f · Cited by 31
Neuronal Intranuclear Inclusions Distinguish Familial FTD-MND Type from Sporadic Cases
Mackenzie, I. R., & Feldman, H. (2004) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000077166 · Cited by 23
Research works printed but not linked: 1
- Lowe J, 2003, Neurodegeneration: the molecular pathology of dementia and movement disorders, 342
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235
Neary, D., Snowden, J. S., & Mann, D. M. A. (2005) · The Lancet Neurology · doi:10.1016/s1474-4422(05)70223-4 · Cited by 558
Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
Ju, J.-S., Fuentealba, R. A., Miller, S. E., Jackson, E., Piwnica-Worms, D., Baloh, R. H., & Weihl, C. C. (2009) · Journal of Cell Biology · doi:10.1083/jcb.200908115 · Cited by 494
Interactions of pathological proteins in neurodegenerative diseases
Spires‐Jones, T. L., Attems, J., & Thal, D. R. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1709-7 · Cited by 435
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Metadata
- Authors
- Schröder, R., Watts, G. D. J., Mehta, S. G., Evert, B. O., Broich, P., Fließbach, K., Pauls, K., Hans, V. H., Kimonis, V., & Thal, D. R.
- Affiliations
- University of Cologne (DE)
- Boston Children's Hospital (US)
- University Hospital Bonn (DE)
- Corresponding author
- Schröder, Rolf
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2005-02-24
- Volume
- 57
- Issue
- 3
- Pages
- 457-461
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2055064377
- Cited by
- 177
- References
- 19
- Citations by year
- 2025: 2 · 2024: 3 · 2023: 4 · 2022: 4 · 2021: 4 · 2020: 3 · 2019: 3 · 2018: 3 · 2017: 10 · 2016: 8 · 2015: 7 · 2014: 9 · 2013: 6 · 2012: 13
- FWCI
- 13.39
- Type
- journal article
- Language
- en
- Open access
- green
- escholarship.org
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- Funders
- Deutsche Forschungsgemeinschaft (TH 624/4-1)
- BONFOR (O-154.0041)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- VCP, VCP gene, frontotemporal dementia, inclusion body myopathy, ubiquitin binding, autosomal dominant inheritance, Paget's disease of bone
- MeSH terms
- Valosin Containing Protein, Adenosine Triphosphatases, Arginine, Brain, Cysteine, Dementia, DNA Mutational Analysis, Female, Glial Fibrillary Acidic Protein, Humans, Immunohistochemistry, Middle Aged, Staining and Labeling, Blotting, Western, Amyloid beta-Protein Precursor, tau Proteins, Cell Cycle Proteins, Genetic Predisposition to Disease, Mutation, Missense, Ubiquitin
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