Dataset Information
Cryo electron microscopy of beta-2-microglobulin amyloid fibrils for the variant D76N (in vitro, pH 6.2)
Ontology highlight
ABSTRACT:
SUBMITTER: Martin Wilkinson
PROVIDER: EMPIAR-11384 | biostudies-other |
REPOSITORIES: biostudies-other
Publications
Disease-relevant β<sub>2</sub>-microglobulin variants share a common amyloid fold.
Nature communications 20230302 1
β<sub>2</sub>-microglobulin (β<sub>2</sub>m) and its truncated variant ΔΝ6 are co-deposited in amyloid fibrils in the joints, causing the disorder dialysis-related amyloidosis (DRA). Point mutations of β<sub>2</sub>m result in diseases with distinct pathologies. β<sub>2</sub>m-D76N causes a rare systemic amyloidosis with protein deposited in the viscera in the absence of renal failure, whilst β<sub>2</sub>m-V27M is associated with renal failure, with amyloid deposits forming predominantly in the ...[more]
