Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
(2005) In Nature Genetics 37(8). p.806-808- 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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- author
- organization
- publishing date
- 2005
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 37
- issue
- 8
- pages
- 806 - 808
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:16041373
- wos:000230880400009
- scopus:23044471011
- ISSN
- 1546-1718
- DOI
- 10.1038/ng1609
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)
- id
- 77bed682-a5b3-4851-bbaa-0578dcf0d119 (old id 231436)
- date added to LUP
- 2016-04-01 15:20:25
- date last changed
- 2022-04-22 07:09:41
@article{77bed682-a5b3-4851-bbaa-0578dcf0d119, 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.}}, author = {{Skibinski, G and Parkinson, NJ and Brown, JM and Chakrabarti, L and Lloyd, SL and Hummerich, H and Nielsen, JE and Hodges, JR and Spillantini, MG and Thusgaard, T and Brandner, S and Brun, Arne and Rossor, MN and Gade, A and Johannsen, P and Sorensen, SA and Gydesen, S and Fisher, EMC and Collinge, J}}, issn = {{1546-1718}}, language = {{eng}}, number = {{8}}, pages = {{806--808}}, publisher = {{Nature Publishing Group}}, series = {{Nature Genetics}}, title = {{Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia}}, url = {{http://dx.doi.org/10.1038/ng1609}}, doi = {{10.1038/ng1609}}, volume = {{37}}, year = {{2005}}, }