Article
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
Human molecular genetics - 15 Jan 2008
van der Zee Julie, Urwin Hazel, Engelborghs Sebastiaan, Bruyland Marc, Vandenberghe Rik, Dermaut Bart, De Pooter Tim, Peeters Karin, Santens Patrick, De Deyn Peter P, Fisher Elizabeth M, Collinge John, Isaacs Adrian M, Van Broeckhoven Christine
Abstract excerpt
The charged multivesicular body protein 2B gene (CHMP2B) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a Danish FTLD family (FTD-3). In this family, a mutation in the acceptor splice site of exon 6 produced two aberrant transcripts predicting two C-truncated CHMP2B proteins due to a read through of intron 5 (p.Met178ValfsX2) and a cryptic splicing event within...
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