Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.

@article{MendozaBarber2013StructuralAF,
  title={Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.},
  author={Elena Mendoza-Barber{\'a} and Josep Julve and Stefan K. Nilsson and Aivar L{\~o}okene and Jes{\'u}s Ma Mart{\'i}n-Campos and Rosa Roig and Alfonso M. Lechuga-Sancho and John Henry Sloan and Pablo Fuentes-Prior and Francisco Blanco-Vaca},
  journal={Journal of lipid research},
  year={2013},
  volume={54 3},
  pages={649-61}
}
During the diagnosis of three unrelated patients with severe hypertriglyceridemia, three APOA5 mutations [p.(Ser232_Leu235)del, p.Leu253Pro, and p.Asp332ValfsX4] were found without evidence of concomitant LPL, APOC2, or GPIHBP1 mutations. The molecular mechanisms by which APOA5 mutations result in severe hypertriglyceridemia remain poorly understood, and the functional impairment/s induced by these specific mutations was not obvious. Therefore, we performed a thorough structural and functional… CONTINUE READING