Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

Author: Buchert, Rebecca; Burkhalter, Martin D.; Huridou, Chrisovalantou; Sofan, Linda; Roser, Timo; Cremer, Kirsten; Alvi, Javeria Raza; Efthymiou, Stephanie; Froukh, Tawfiq; Gulieva, Sughra; Guliyeva, Ulviyya; Hamdallah, Moath; Holder-Espinasse, Muriel; Kaiyrzhanov, Rauan; Klingler, Doreen; Koko, Mahmoud; Matthies, Lars; Park, Joohyun; Sturm, Marc; Velic, Ana; Spranger, Stephanie; Sultan, Tipu; Engels, Hartmut; Lerche, Holger; Houlden, Henry; Pagnamenta, Alistair T.; Borggraefe, Ingo; Weber, Yvonne; Bonnen, Penelope E.; Maroofian, Reza; Riess, Olaf; Weber, Jonasz J.; Philipp, Melanie; Haack, Tobias B.
Tübinger Autor(en):
Buchert, Rebecca
Huridou, Chrisovalantou
Sofan, Linda
Klingler, Doreen
Koko, Mahmoud
Park, Joohyun
Sturm, Marc
Lerche, Holger
Burkhalter, Martin David
Weber, Yvonne G.
Rieß, Olaf
Weber, Jonasz Jeremiasz
Philipp, Melanie Karin
Haack, Tobias
Published in: American Journal of Human Genetics (2025), Bd. 112, H. 2, S. 374-393
Verlagsangabe: Cambridge : Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2024.12.019
ISSN: 0002-9297
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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