Business Wire25d
Papillon Therapeutics Receives Rare Pediatric Disease Designation from the U.S. Food and Drug Administration for PPL-002 for the Treatment of Danon Disease
About Danon Disease Danon disease is a rare, X-linked genetic disorder caused by mutations in the LAMP2 gene, leading to the accumulation of autophagic vacuoles in cells, primarily in the heart ...
pharmaphorum8d
Rocket Pharmaceuticals in orbit after gene therapy read-out
Danon Disease is a rare X-linked disorder caused by genetic mutations in the LAMP2 gene and the therapy works by instructing the body to express a healthy copy of the LAMP2B protein in order to ...
ahajournals.org5d
Abstract 4139615: X-linked LAMP2B p.Val397Ile variant leads to late-onset Danon disease in females with hypertrophic cardiomyopathy
Results: Patient heart tissue showed increased LAMP2 degradation and decreased autophagy markers by Western blot. EndoH treatment to investigate N-linked glycosylation patterns further revealed ...
Frontiers11d
Mechanisms of autophagy and their implications in dermatological disorders
Under conditions of oxidative stress, autophagy-associated factors ATG5 and LC3B are reduced in the hair matrix, suggesting that autophagy in the hair follicle is reduced during the development of AA ...