Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

  • Circ Res. 2021 Sep 17;129(7):751-766. doi: 10.1161/CIRCRESAHA.120.317076.
Radhika Agarwal  1 ,  Joao A Paulo  2 ,  Christopher N Toepfer  1  3  4 ,  Jourdan K Ewoldt  5 ,  Subramanian Sundaram  5  6 ,  Anant Chopra  5  6 ,  Qi Zhang  1 ,  Joshua Gorham  1 ,  Steven R DePalma  1 ,  Christopher S Chen  5  6 ,  Steven P Gygi  #  2 ,  Christine E Seidman  #  1  7  8 ,  J G Seidman  #  1
Affiliations
  • 1. Department of Genetics (R.A., C.N.T., Q.Z., J.G., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.
  • 2. Department of Cell Biology(J.A.P., S.P.G.), Harvard Medical School, Boston, MA.
  • 3. Radcliffe Department of Medicine (C.N.T.), University of Oxford, United Kingdom.
  • 4. Wellcome Centre for Human Genetics (C.N.T.), University of Oxford, United Kingdom.
  • 5. Department of Biomedical Engineering, Boston University, MA (J.K.E., S.S., A.C., C.S.C.).
  • 6. Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, MA (S.S., A.C., C.S.C.).
  • 7. Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.).
  • 8. Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA (C.E.S.).
  • # Contributed equally.
PMID: 34405687 DOI: 10.1161/CIRCRESAHA.120.317076
Abstract

[Figure: see text].

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