Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3

Autor: Schänzer, A., Rupp, S., Gräf, S., Zengeler, D., Jux, C., Akintürk, H., Gulatz, L., Mazhari, N., Acker, T., Van Coster, R., Garvalov, B.K., Hahn, A.

Publikováno v: In Molecular Genetics and Metabolism March 2018 123(3):388-399

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".

Autor: Schänzer A; Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany. anne.schaenzer@patho.med.uni-giessen.de., Schumann E; Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany., Zengeler D; Center for Genomics and Transcriptomics (CeGat) GmbH, Tübingen, Germany., Gulatz L; Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany., Maroli G; Department of Cardiac Development and Remodeling, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany., Ahting U; Institute of Human Genetics, Technical University of Munich (TUM), Munich, Germany., Sprengel A; Pediatric Heart Center, Justus Liebig University, Giessen, Germany., Gräf S; Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany., Hahn A; Department of Child Neurology, Justus Liebig University, Giessen, Germany., Jux C; Pediatric Heart Center, Justus Liebig University, Giessen, Germany., Acker T; Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany., Fürst DO; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany., Rupp S; Pediatric Heart Center, Justus Liebig University, Giessen, Germany., Schuld J; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany., van der Ven PFM; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany.

Publikováno v: Journal of muscle research and cell motility [J Muscle Res Cell Motil] 2021 Jun; Vol. 42 (2), pp. 381-397. Date of Electronic Publication: 2021 Mar 12.

P.77 - Increased cardiac muscle autophagy in a child with restrictive cardiomyopathy, proximal myopathy and neuropathy due to a mutation in the BAG3 (Pro209Leu) gene

Autor: Schänzer, A., Rupp, S., Mall, G., Akintürk, H., Schramz, D., Gulatz, L., Thul, J., Mazhari, N., Hahn, A.

Publikováno v: In Neuromuscular Disorders October 2017 27 Supplement 2:S121-S121

Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study.

Autor: Angelini, Corrado¹ (AUTHOR) corrado.angelini@unipd.it, Ceolin, Chiara² (AUTHOR), Rodriguez, Alicia Aurora³ (AUTHOR), Nigro, Vincenzo⁴ (AUTHOR)

Publikováno v: Muscles (2813-0413). Jun2023, Vol. 2 Issue 2, p177-186. 10p.

Gestörte kardiale Autophagie bei einer kardio-skeletalen Myofibrillären Myopathie im Kindesalter aufgrund einer BAG3 (Pro209Leu) Mutation

Autor: Schumann, E, Gulatz, L, Zengeler, D, Gräf, S, Rupp, S, Schänzer, A

Publikováno v: Nervenheilkunde; May 2019, Vol. 38 Issue: 5