Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect
Böck, Julia, Krogsaeter, Einar, Passon, Marcel, Chao, Yu-Kai, Sharma, Sapna, Grallert, Harald, Peters, Annette, Grimm, Christian
Published in PLoS genetics (19.01.2021)
Published in PLoS genetics (19.01.2021)
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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Scotto Rosato, Anna, Krogsaeter, Einar K, Jaślan, Dawid, Abrahamian, Carla, Montefusco, Sandro, Soldati, Chiara, Spix, Barbara, Pizzo, Maria Teresa, Grieco, Giuseppina, Böck, Julia, Wyatt, Amanda, Wünkhaus, Daniela, Passon, Marcel, Stieglitz, Marc, Keller, Marco, Hermey, Guido, Markmann, Sandra, Gruber‐Schoffnegger, Doris, Cotman, Susan, Johannes, Ludger, Crusius, Dennis, Boehm, Ulrich, Wahl‐Schott, Christian, Biel, Martin, Bracher, Franz, De Leonibus, Elvira, Polishchuk, Elena, Medina, Diego L, Paquet, Dominik, Grimm, Christian
Published in EMBO molecular medicine (07.09.2022)
Published in EMBO molecular medicine (07.09.2022)
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Principles of antibodies with ultralong complementarity-determining regions and picobodies
Passon, Marcel, De Smedt, Stefaan, Svilenov, Hristo L.
Published in Biotechnology advances (01.05.2023)
Published in Biotechnology advances (01.05.2023)
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