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Titel:

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Dokumenttyp:
Article; Journal Article
Autor(en):
Patterson, Victoria; Ullah, Farid; Bryant, Laura; Griffin, John N; Sidhu, Alpa; Saliganan, Sheila; Blaile, Mackenzie; Saenz, Margarita S; Smith, Rosemarie; Ellingwood, Sara; Grange, Dorothy K; Hu, Xuyun; Mireguli, Maimaiti; Luo, Yanfei; Shen, Yiping; Mulhern, Maureen; Zackai, Elaine; Ritter, Alyssa; Izumi, Kosaki; Hoefele, Julia; Wagner, Matias; Riedhammer, Korbinian M; Seitz, Barbara; Robin, Nathaniel H; Goodloe, Dana; Mignot, Cyril; Keren, Boris; Cox, Helen; Jarvis, Joanna; Hempel, Maja; Gibso...     »
Abstract:
We report 21 families displaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of rare variants in mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4). MAP4K4 has been implicated in many signaling pathways including c-Jun N-terminal and RAS kinases and is currently under investigation as a druggable target for multiple disorders. Using several zebrafish models, we demonstrate that these human variants are either loss-of-function or dominant-...     »
Zeitschriftentitel:
Sci Adv
Jahr:
2023
Band / Volume:
9
Heft / Issue:
17
Volltext / DOI:
doi:10.1126/sciadv.ade0631
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37126546
Print-ISSN:
2375-2548
TUM Einrichtung:
611; Institut für Humangenetik (Prof. Winkelmann); Klinik und Poliklinik für Kinder- und Jugendmedizin (Prof. Hauer); Professur für Nephrologie (Prof. Heemann)
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