DOI: 10.1038/ng1609

¤ OpenAccess: Green

This work has “Green” OA status. This means it may cost money to access on the publisher landing page, but there is a free copy in an OA repository.

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

Gaia Skibinski,Nicholas Parkinson,Jeremy Brown,Lisa Chakrabarti,Sarah L Lloyd,Holger Hummerich,Jörgen E. Nielsen,John R. Hodges,Maria Grazia Spillantini,T Thusgaard,Sebastian Brandner,Arne Brun,Martin N. Rossor,Anders Gade,Peter Johannsen,Sven Asger Sørensen,Susanne Gydesen,Elizabeth Fisher,John Collinge

Frontotemporal dementia

Biology

Missense mutation

2005

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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“Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia” is a paper by Gaia Skibinski Nicholas Parkinson Jeremy Brown Lisa Chakrabarti Sarah L Lloyd Holger Hummerich Jörgen E. Nielsen John R. Hodges Maria Grazia Spillantini T Thusgaard Sebastian Brandner Arne Brun Martin N. Rossor Anders Gade Peter Johannsen Sven Asger Sørensen Susanne Gydesen Elizabeth Fisher John Collinge published in 2005. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.