4-Phenylbutyrate to Musculoskeletal structure
Added 2022-12-23 13:00:15 +0000 UTCFor sufferers of the problem/mutation
Dysferlinopathy
Research taken from
Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin (DYSF), a membrane protein involved in skeletal muscle membrane repair. We describe a cell-based assay in which human DYSF proteins bearing missense mutations are quantitatively assayed for membrane localization by flow cytometry and identified 64 localization-defective DYSF mutations. Using this platform, we show that the clinically approved drug 4-phenylbutryric acid (4-PBA) partially restores membrane localization to 25 mutations, as well as membrane repair to cultured myotubes expressing 2 different mutations. Two-day oral administration of 4-PBA to mice homozygous for one of these mutations restored myofiber membrane repair. 4-PBA may hold therapeutic potential for treating a subset of humans with muscular dystrophy due to dysferlin deficiency.
Comments
Can you use this even if you don’t have the disease?
Brownie
2023-10-19 14:08:04 +0000 UTCZoe here's something that works temporarily eat organic cucumbers and organic appleslices before bed and drink at least 8oz bottle of water before bed it helps alot another thing that helps me is moringa extract non alcohol. you can look on Amazon for one you like it's helped me greatly
2023-01-26 06:57:12 +0000 UTCyour new fields have aligned so much with what I've needed lately. I've never really made a request but if I was to suggest an idea a field that regenerated the lacrimal/meibomiam glands around our eyes or a field to cure dry eyes/aqueous tear deficiency would be amazing beyond words. thank you so much for everything Sapien and Merry Christmas
Z
2022-12-24 13:22:23 +0000 UTC
