Year: 2017
Type: article
Abstract: Systemic amyloidosis is characterized by the extracellular deposition of misfolded proteins as insoluble amyloid fibrils in various tissues. The familial forms of amyloidosis (AF) comprise a group of autosomal dominant diseases associated with mutations in a number of genes encoding amyloid precursor proteins. These diseases collectively exhibit various phenotypes, including ages of onset, organ involvements, rates of progression, and prognoses.1,2 Hereditary nonneuropathic, renal amyloidosis was first reported by Ostertag3,4; since that report, mutations in lysozyme,2 fibrinogen A-α chain,5,6 transthyretin,7 gelsolin,8 apolipoprotein (apo) A-I,4,7 A-II,4 A-IV,9,10 C-II,11 and C-III12 have been linked to the disease.
Source: Kidney International Reports
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,800
OpenAlex ID: W2741149596