Amyloidogenicity assessment of transthyretin gene variants.

Nicolai B GretherFelix NapravnikThomas ImhofReinhold P LinkeJan H BräsenJessica SchmitzMaike DohrnChristian SchneiderMartin K R SvačinaJörg StetefeldManuel Koch Helmar Christoph Lehmann

Published in: Annals of clinical and translational neurology (2022)

We propose a biochemical approach to assess amyloidogenic potential of transthyretin variants. As exemplified by transthyretin-Ala65Val, data of three assays together with histopathology clearly demonstrates its amyloidogenicity.

Keyphrases

copy number
wild type
genome wide
high throughput
big data
dna methylation
human health
climate change
artificial intelligence
single cell
clinical evaluation