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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Transthyretin Amyloid Cardiomyopathy: Wherever Protein Stabilization Leads, Disease Stabilization Follows

Justin L Grodin1

  • 1Division of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Journal of the American College of Cardiology
|March 12, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
acoramidisamyloidosistafamidistransthyretin

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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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