The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Abstract
We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.
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“CHMP2B downregulation or expression of disease-associated CHMP2B mutants in Drosophila and mammalian cell lines results in aberrant endosomal structures, impaired autophagosome maturation, and cytosolic TARDBP aggregates [264,265,268,269].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [264]
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“CHMP2B mutations were initially associated with rare cases of chromosome 3-linked familial FTD [264,265]”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [264]
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Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
Rascovsky, K., Hodges, J. R., Knopman, D., Mendez, M. F., Kramer, J. H., Neuhaus, J., van Swieten, J. C., Seelaar, H., Dopper, E. G. P., Onyike, C. U., et al. (2011) · Brain · doi:10.1093/brain/awr179 · Cited by 5,221
Self-citationA Century of Alzheimer's Disease
Goedert, M., & Spillantini, M. G. (2006) · Science · doi:10.1126/science.1132814 · Cited by 2,153
Self-citationThe role of autophagy in neurodegenerative disease
Nixon, R. A. (2013) · Nature Medicine · doi:10.1038/nm.3232 · Cited by 2,059
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
Ling, S.-C., Polymenidou, M., & Cleveland, D. W. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.033 · Cited by 1,811
Regulation of Mammalian Autophagy in Physiology and Pathophysiology
Ravikumar, B., Sarkar, S., Davies, J. E., Futter, M., García-Arencibia, M., Green-Thompson, Z. W., Jiménez-Sánchez, M., Korolchuk, V. I., Lichtenberg, M., Luo, S., et al. (2010) · Physiological Reviews · doi:10.1152/physrev.00030.2009 · Cited by 1,789
Metadata
- Authors
- 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., Brandner, S., Brun, A., Rossor, M. N., Gade, A., Johannsen, P., Sørensen, S. A., Gydesen, S., Fisher, E. M., & Collinge, J.
- Affiliations
- MRC Prion Unit (GB)
- Addenbrooke's Hospital (GB)
- University of Copenhagen (DK)
- MRC Cognition and Brain Sciences Unit (GB)
- University of Cambridge (GB)
- Dantherm Power (Denmark) (DK)
- Skåne University Hospital (SE)
- UCL Queen Square Institute of Neurology (GB)
- Copenhagen University Hospital (DK)
- Holbæk Sygehus (DK)
- Corresponding author
- Fisher, Elizabeth MC
- ORCID
- Venue
- Nature Genetics
- Published
- 2005-07-24
- Volume
- 37
- Issue
- 8
- Pages
- 806-808
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2034183549
- Cited by
- 822
- References
- 15
- Citations by year
- 2026: 17 · 2025: 29 · 2024: 20 · 2023: 31 · 2022: 29 · 2021: 35 · 2020: 37 · 2019: 32 · 2018: 37 · 2017: 35 · 2016: 46 · 2015: 42 · 2014: 27 · 2013: 33 · 2012: 58
- FWCI
- 33.33
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Keywords
- frontotemporal dementia, CHMP2B, endosomal sorting, aberrant mRNA splicing, missense mutations, autosomal dominant inheritance, chromosome 3, neurodegeneration
- MeSH terms
- Dementia, Humans, Mutation, Nerve Tissue Proteins, Pedigree, RNA Splicing, Mutation, Missense, Endosomal Sorting Complexes Required for Transport
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