Downloads provided by UsageCountsMutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Copyright policy ) Skibinski, Gaia; Parkinson, Nj J.; Brown, Jm; Chakrabarti, Lisa; Lloyd, Sl L.; Hummerich, Holger; Nielsen, Je; +13 Authors
Skibinski, Gaia; Parkinson, Nj J.; Brown, Jm; Chakrabarti, Lisa; Lloyd, Sl L.; Hummerich, Holger; Nielsen, Je; Hodges, John R.; Spillantini, Mg; Thusgaard, Tove; Brandner, Sebastian; Brun, Arne; Rossor, Mn; Gade, Anders; Johannsen, Peter; Sorensen, Sa; Sørensen, Sven Asger; Gydesen, Susanne; Fisher, Emc M. C.; Collinge, John;
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
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.
- University of Copenhagen Denmark
- University College London United Kingdom
- University of Cambridge United Kingdom
- Copenhagen University Hospital Denmark
- MRC Prion Unit United Kingdom
Endosomal Sorting Complexes Required for Transport, RNA Splicing, Mutation, Mutation, Missense, Humans, Dementia, Nerve Tissue Proteins, Pedigree
Endosomal Sorting Complexes Required for Transport, RNA Splicing, Mutation, Mutation, Missense, Humans, Dementia, Nerve Tissue Proteins, Pedigree
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These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Influence provided by BIP!impulseImpulse provided by BIP!
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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