Cryo-EM structures of biopsy-d... Note

Cryo-EM structures of biopsy-derived TTR fibrils in hereditary transthyretin amyloidosis

Hereditary transthyretin amyloidosis (ATTRv) is a fatal autosomal dominant disease characterized by systemic deposition of transthyretin amyloid fibrils. Authors present nineteen high-resolution cryo-EM fibril structures from ten living ATTRv patients carrying nine distinct heterozygous mutations.