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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Skibinski, G; Parkinson, NJ; Brown, JM; Chakrabarti, L; Lloyd, SL; Hummerich, H; Nielsen, JE; Hodges, JR; Spillantini, MG and Thusgaard, T, et al. (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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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
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yes
id
77bed682-a5b3-4851-bbaa-0578dcf0d119 (old id 231436)
date added to LUP
2007-08-20 09:28:45
date last changed
2017-11-19 04:03:30
@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},
  volume       = {37},
  year         = {2005},
}