Article
An unusual phenotype of hereditary AApoAI amyloidosis caused by a novel Asp20Tyr substitution is linked to pH-dependent aggregation of apolipoprotein A-I.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jun 2025
Prokaeva Tatiana, Jayaraman Shobini, Klimtchuk Elena, Burke Natasha, Spencer Brian, Nedelkov Dobrin, Chen Hui, Dasari Surendra, McPhail Ellen D, Pereira Lucas, Payne Michael C, Wong Sherry, Burks Eric J, Sanchorawala Vaishali, Gursky Olga
Abstract excerpt
Apolipoprotein A-I (apoA-I) plays beneficial roles as the major structural and functional protein on plasma high-density lipoproteins (HDL). However, APOA1 gene mutations can cause protein misfolding and pathologic amyloid deposition in various organs in human hereditary AApoAI amyloidosis, a potentially lethal systemic disease. We report esophageal and duodenal AApoAI amyloidosis in a 56-year-old patient with...
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