Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia[S]

Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia[S]

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 s...

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Bibliographic Details
Main Authors: Elena Mendoza-Barberá, Josep Julve, Stefan K. Nilsson, Aivar Lookene, Jesús M. Martín-Campos, Rosa Roig, Alfonso M. Lechuga-Sancho, John H. Sloan, Pablo Fuentes-Prior, Francisco Blanco-Vaca
Format: Article
Language:English
Published: Elsevier 2013-03-01
Series:Journal of Lipid Research
Subjects:
apoA-V
familial hyperchylomicronemia
homology modeling
molecular bases of disease
LRP1
sortilin
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520419303

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http://www.sciencedirect.com/science/article/pii/S0022227520419303

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