Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

BACKGROUND: The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations in SEC61A1 were reported to be patho...

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Detalles Bibliográficos
Autores principales: Van Nieuwenhove, Erika, Barber, John S., Neumann, Julika, Smeets, Elien, Willemsen, Mathijs, Pasciuto, Emanuela, Prezzemolo, Teresa, Lagou, Vasiliki, Seldeslachts, Laura, Malengier-Devlies, Bert, Metzemaekers, Mieke, Haßdenteufel, Sarah, Kerstens, Axelle, van der Kant, Rob, Rousseau, Frederic, Schymkowitz, Joost, Di Marino, Daniele, Lang, Sven, Zimmermann, Richard, Schlenner, Susan, Munck, Sebastian, Proost, Paul, Matthys, Patrick, Devalck, Christine, Boeckx, Nancy, Claessens, Frank, Wouters, Carine, Humblet-Baron, Stephanie, Meyts, Isabelle, Liston, Adrian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2020
Materias:
Translational and Clinical Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649975/
https://www.ncbi.nlm.nih.gov/pubmed/32325141
http://dx.doi.org/10.1016/j.jaci.2020.03.034

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