Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

por McTiernan, Nina, Tranebjærg, Lisbeth, Bjørheim, Anna S., Hogue, Jacob S., Wilson, William G., Schmidt, Berkley, Boerrigter, Melissa M., Nybo, Maja L., Smeland, Marie F., Tümer, Zeynep, Arnesen, Thomas
Publicado 2022

Loss of Adgra3 causes obstructive azoospermia with high penetrance in male mice

por Nybo, Maja L., Kvam, Jone M., Nielsen, John E., Frederiksen, Hanne, Spiess, Katja, Jensen, Kristian H. R., Gadgaard, Sarina, Walser, Anna L. S., Thomsen, Jesper S., Cowin, Pamela, Juul, Anders, Jensen, Martin Blomberg, Rosenkilde, Mette M.
Publicado 2023

Metabolic insights from a GHSR-A203E mutant mouse model

por Torz, Lola J., Osborne-Lawrence, Sherri, Rodriguez, Juan, He, Zhenyan, Cornejo, María Paula, Mustafá, Emilio Román, Jin, Chunyu, Petersen, Natalia, Hedegaard, Morten A., Nybo, Maja, Damonte, Valentina Martínez, Metzger, Nathan P., Mani, Bharath K., Williams, Kevin W., Raingo, Jesica, Perello, Mario, Holst, Birgitte, Zigman, Jeffrey M.
Publicado 2020