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.

Radhika Agarwal¹, Joao A Paulo², Christopher N Toepfer^{1

3

4}, Jourdan K Ewoldt⁵, Subramanian Sundaram^{5

6}, Anant Chopra^{5

6}, Qi Zhang¹, Joshua Gorham¹, Steven R DePalma¹, Christopher S Chen^{5

6}, Steven P Gygi^#², Christine E Seidman^#^{1

7

8}, J G Seidman^#¹

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.