Shrestha Shaw
@shresthashaw.bsky.social
Budding scientist hopefully! My work is supported by coffee and hot chocolates.
Congratulations to Kohl Kato and Pete Cullen and all involved in this tour de force characterising mutations in the Commander complex leading to Ritscher-Schinzel or 3C syndrome. @peterjcullen1.bsky.social
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy
The multiorgan phenotypes found in Ritscher-Schinzel syndrome stem from defective endosomal protein recycling, leading to a proposed recyclinopathy.
www.science.org
July 4, 2025 at 10:59 PM