Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.
Schänzer A, Rupp S, Gräf S, Zengeler D, Jux C, Akintürk H, Gulatz L, Mazhari N, Acker T, Van Coster R, Garvalov BK, Hahn A.
Schänzer A, et al.
Mol Genet Metab. 2018 Mar;123(3):388-399. doi: 10.1016/j.ymgme.2018.01.001. Epub 2018 Jan 6.
Mol Genet Metab. 2018.
PMID: 29338979
Detailed morphological analyses of the explanted heart tissue showed intracytoplasmic inclusions, aggregation of BAG3 and desmin, disintegration of myofibers and Z-disk alterations. The presence of undegraded autophagosomes, seen by electron microscopy, as well as increase …
Detailed morphological analyses of the explanted heart tissue showed intracytoplasmic inclusions, aggregation of BAG3 and desmin, disintegra …