A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

Ane San Jose-UrteagaKevin ChemelloAsier Larrea-SebalKepa B UribeUnai Galicia-GarciaSteeve BouraneAli K JaafarGilles Lambert Martín César

Published in: International journal of molecular sciences (2021)

We propose that transient transfections of HEK293 cells with a plasmid encoding a PCSK9 variant followed by LDLR expression assessment by flow cytometry is sufficient to reliably determine its GOF or LOF status. More refined experiments should only be used to determine the underlying mechanism(s) at hand.

Keyphrases

flow cytometry
induced apoptosis
low density lipoprotein
poor prognosis
cell cycle arrest
escherichia coli
machine learning
deep learning
copy number
crispr cas
binding protein
cell death
signaling pathway
gene expression
pi k akt