Article
Structural determinants in ApoA-I amyloidogenic variants explain improved cholesterol metabolism despite low HDL levels.
Biochimica et biophysica acta. Molecular basis of disease - 1 Dec 2017
Del Giudice Rita, Domingo-Espín Joan, Iacobucci Ilaria, Nilsson Oktawia, Monti Maria, Monti Daria Maria, Lagerstedt Jens O
Abstract excerpt
Twenty Apolipoprotein A-I (ApoA-I) variants are responsible for a systemic hereditary amyloidosis in which protein fibrils can accumulate in different organs, leading to their failure. Several ApoA-I amyloidogenic mutations are also associated with hypoalphalipoproteinemia, low ApoA-I and high-density lipoprotein (HDL)-cholesterol plasma levels; however, subjects affected by ApoA-I-related amyloidosis do not show...
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