LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

by Hakonen, Johanna E, Sorrentino, Vincenzo, Trezza, Rossella Avagliano, de Wissel, Marit B, van den Berg, Marlene, Bleijlevens, Boris, van Ruissen, Fred, Distel, Ben, Baas, Frank, Zelcer, Noam, Weterman, Marian AJ
Published 2024

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

by Weterman, Marian AJ, Sorrentino, Vincenzo, Kasher, Paul R, Jakobs, Marja E, van Engelen, Baziel GM, Fluiter, Kees, de Wissel, Marit B, Sizarov, Aleksander, Nuernberg, Gudrun, Nuernberg, Peter, Zelcer, Noam, Schelhaas, H Jurgen, Baas, Frank
Published 2024