Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Autor: Schänzer, Anne, Achleitner, Melanie T., Trümbach, Dietrich, Hubert, Laurence, Munnich, Arnold, Ahlemeyer, Barbara, AlAbdulrahim, Maha M., Greif, Philipp A., Vosberg, Sebastian, Hummer, Blake, Feichtinger, René G., Mayr, Johannes A., Wortmann, Saskia B., Aichner, Heidi, Rudnik-Schöneborn, Sabine, Ruiz, Anna, Gabau, Elisabeth, Sánchez, Jacobo Pérez, Ellard, Sian, Homfray, Tessa, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel, Justus Liebig University Giessen

Publikováno v: Annals of neurology 90(1), 143-158 (2021). doi:10.1002/ana.26127
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Ann. Neurol. 90, 143-158 (2021)
Annals of neurology

Objective Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3330af47383d2432390544a36ec919b7
https://pub.dzne.de/record/155719