LDL receptor-GFP fusionsproteiner: Ny redskaber til karakterisering af patogene mutationer i LDL receptor genet.

Henrik Uffe Holst, Frederik Dagnæs-Hansen, Thomas Juhl Corydon, Per Hove Andreasen, Malene Munk Jørgensen, Steen Kølvraa, Bolund Lars, Thomas Gryesten Jensen

Publikation: Bidrag til tidsskriftTidsskriftsartikelForskningpeer review

Abstract

The function of a series of LDL receptor GFP fusion proteins with different, flexible, unstructured spacer regions was analysed. An optimised version of the fusion protein was used to analyse the effect of a LDL receptor mutation (W556S) found in FH patients and characterized as transport defective. In cultured liver cells this mutation was found to inhibit the transport of LDL receptor GFP fusion protein to the cell surface, thus leading to impaired internalisation of fluorescent labelled LDL. Co-locallisation studies confirmed the retention of the mutant protein in the endoplasmic reticulum.
Bidragets oversatte titelLDL receptor-GFP fusionsproteiner: Ny redskaber til karakterisering af patogene mutationer i LDL receptor genet.
OriginalsprogEngelsk
Artikelnummer11781697
TidsskriftEuropean Journal of Human Genetics
Vol/bind9
Udgave nummer11
Sider (fra-til)815-822
Antal sider8
ISSN1018-4813
StatusUdgivet - nov. 2001

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