预约演示

更新于：2025-05-07

Myopathy, Myofibrillar, Bag3-Related

Bag3相关肌原纤维肌病

更新于：2025-05-07

基本信息

别名

MFM6、MYOPATHY, MYOFIBRILLAR, 6、Myopathy, Myofibrillar, Bag3-Related

+ [1]

简介-

关联

项与 Bag3相关肌原纤维肌病相关的药物

Chaenomelis Fructus Extract

靶点

BAG3

作用机制

BAG3 inhibitors

在研机构

中藥創新研發中心有限公司

原研机构

中藥創新研發中心有限公司

在研适应症

Bag3相关肌原纤维肌病

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 Bag3相关肌原纤维肌病相关的临床结果

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100 项与 Bag3相关肌原纤维肌病相关的转化医学

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0 项与 Bag3相关肌原纤维肌病相关的专利（医药）

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项与 Bag3相关肌原纤维肌病相关的文献（医药）

2025-08-01·Stem Cell Research

Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6

Article

作者: Hesse, Michael ; Wiemann, Martin ; Filippi, Kerstin ; Peitz, Michael ; Fleischmann, Bernd K ; Rupp, Stefan

As member of the chaperone-assisted selective autophagy (CASA) complex, BAG3 is important for the turnover of muscle proteins. Patients with a point mutation at position 626 in the BAG3 gene (p.P209L, c.626C>T, Chr.10q26) suffer from polyneuropathy and severe myofibrillar myopathy-6 (MFM6). The latter manifests as skeletal muscle dystrophy and restrictive cardiomyopathy. To model MFM6, we generated two non-isogenic human induced pluripotent stem cell (iPSC) lines from patients with this variant. Pluripotency analyses and germ layer differentiations were performed to check the iPSC quality. These hiPSCs enable the characterization of the pathophysiology of MFM6 and testing of new experimental therapeutic approaches.

2025-02-01·Stem Cell Research

Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6

Article

作者: Hesse, Michael ; Filippi, Kerstin ; Conklin, Bruce R ; Fleischmann, Bernd K ; Judge, Luke M ; Riße, Isabelle

BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.626C>T) in the BAG3 gene, leading to myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and polyneuropathy, which manifests as severe skeletal muscle weakness and heart failure. The isogenic induced pluripotent stem cell (iPSC) control line was generated by correcting for c.626C>T in iPSCs from MFM6-patient. Quality control was achieved by testing for pluripotency and differentiation into the three germ layers. In conjunction with patient-specific MFM6 hiPSC, the isogenic hiPSC control line enable the correct analysis of MFM6.

2025-02-01·Stem Cell Research

Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6

Article

作者: Hesse, Michael ; Wiemann, Martin ; Filippi, Kerstin ; Fleischmann, Bernd K

BAG3 plays a key role in proteostasis as a central component of the chaperone-assisted selective autophagy (CASA) complex. A point mutation (p.P209L; c.626C>T) in the BAG3 gene causes severe myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and polyneuropathy leading to muscle weakness and heart failure. Establishing suitable controls for patient-derived BAG3^P209L/WT-induced pluripotent stem cells (iPSCs), two isogenic controls were generated by correcting the point mutation c.626C>T in iPSCs from two MFM6-patients. We performed quality control of these lines by differentiation into the three germ layers and pluripotency tests. These isogenic hiPSC-control lines allow the correct analysis of MFM6 using corresponding patient-specific iPSCs.

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