1. Academic Validation
  2. Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

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

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.
Abstract

[Figure: see text].

Keywords

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

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