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Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment

Echevarria Gallego, Aitor; Benito Vicente, Asier; Ostolaza Echabe, Elena Amaya; Martín Plágaro, César Augusto (Public Library Science, 2014-11-11)

Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing ...

Human LDL Structural Diversity Studied by IR Spectroscopy

Fernández Higuero, José Ángel; Salvador, Ana M.; Martín Plágaro, César Augusto; González Milicua, José Carlos; Rodríguez Arrondo, José Luis (Public Library Science, 2014-03-18)

Lipoproteins are responsible for cholesterol traffic in humans. Low density lipoprotein (LDL) delivers cholesterol from liver to peripheral tissues. A misleading delivery can lead to the formation of atherosclerotic plaques. ...