Article

Molecular basis for a novel systemic form of human hereditary apoA-I amyloidosis with vision loss

2018-06-22

Abstract excerpt

Hereditary apolipoprotein A-I (apoA-I) amyloidosis (AApoAI) is a life-threatening incurable genetic disorder whose molecular underpinnings and the full spectrum of afflicted organs are unclear. We report a new form of AApoAI with amyloid deposition in multiple organs, including an unprecedented retinal amyloidosis. Genetic and proteomic analyses identified Glu34Lys apoA-I as the fibrillar protein causing the clini...

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Literature Corpus work: 66cd4d8e-8f36-51d3-893f-c586cdc22054
DOI: 10.1101/354001

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