Expression analysis of GTP mutations.
figureposted on 2017-06-29, 17:45 authored by Patricia Yuste-Checa, Ana I. Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
A) COS-7 cells were cotransfected with the wild type GPT-GFP fused protein (green fluorescence) or the protein bearing the mutations (p.Phe110Ser, p.Leu120Met, p.Val264Gly, p.Arg301Cys, p.Arg301His and p.Leu385Arg) and with the Calreticulin-DsRed fused protein (red fluorescence) as an ER marker. B) Quantification of GPT-GFP (colocalised with Calnexin-DsRed protein) fluorescence intensity. Data were collected from two different experiments; at least 80 images were analysed. Data represent mean ± SD. ***p<0.001.
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p.Arg 301Cys c .902Gnovel mutation c .329TDPAGT 1-CDG Functional analysisGPTendoplasmic reticulum stress Pathogenic mutationsCOS -7 cellsp.Val 264Gly c .901CCMSglycosylation DPAGT 1-CDGp.Leu 120Met c .791TDPAGT 1endoplasmic reticulum stressDPAGT 1-CDGERUPR2-CDGPMMUDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransferaseGTPDPAGT 1 transcriptional profilesp.Arg 301His c .1154TproteinDPM.358Cpatient-derived fibroblasts