Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6
BAG3 contributes to the maintenance of proteostasis through chaperone-assisted selective autophagy. This function is impaired by a single amino acid exchange (P209L) in the protein, which causes myofibrillar myopathy-6 (MFM6). This disease manifests as severe skeletal muscle weakness, neuropathy and...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-02-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003398 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|