Reposted by Christos Matsingos
New preprint from by @chmatsingos.bsky.social et al. from the SPPIN "Membrane Dynamics" team !
First proposed mechanism for #SallaDisease where sialic acid accumulates in lysosomes due to defective sialin transport in patients with the R39C mutation.
www.biorxiv.org/content/10.6...
biorxiv.org