Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

Circ Res. 2021 Sep 17;129(7):751-766. doi: 10.1161/CIRCRESAHA.120.317076. Epub 2021 Aug 18.

Abstract

[Figure: see text].

Keywords: cardiomyopathies; filamin; induced pluripotent stem cell; lysosome; sarcomere.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Cardiomyopathies / genetics*
  • Cells, Cultured
  • Filamins / genetics*
  • Filamins / metabolism
  • Humans
  • Induced Pluripotent Stem Cells / cytology
  • Induced Pluripotent Stem Cells / metabolism
  • Lysosomes / metabolism*
  • Myocardial Contraction
  • Myocytes, Cardiac / cytology
  • Myocytes, Cardiac / metabolism
  • Myocytes, Cardiac / physiology
  • Sarcomeres / metabolism

Substances

  • FLNC protein, human
  • Filamins