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Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Van Nieuwenhove E, Barber JS, Neumann J, Smeets E, Willemsen M, Pasciuto E, Prezzemolo T, Lagou V, Seldeslachts L, Malengier-Devlies B, Metzemaekers M, Haßdenteufel S, Kerstens A, van der Kant R, Rousseau F, Schymkowitz J, Di Marino D, Lang S, Zimmermann R, Schlenner S, Munck S, Proost P, Matthys P, Devalck C, Boeckx N, Claessens F, Wouters C, Humblet-Baron S, Meyts I, Liston A. Van Nieuwenhove E, et al. Among authors: hassdenteufel s. J Allergy Clin Immunol. 2020 Nov;146(5):1180-1193. doi: 10.1016/j.jaci.2020.03.034. Epub 2020 Apr 20. J Allergy Clin Immunol. 2020. PMID: 32325141 Free PMC article.
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer AA, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck JM, Zimmermann R, Grimbacher B. Schubert D, et al. Among authors: hassdenteufel s. J Allergy Clin Immunol. 2018 Apr;141(4):1427-1438. doi: 10.1016/j.jaci.2017.06.042. Epub 2017 Aug 4. J Allergy Clin Immunol. 2018. PMID: 28782633 Free PMC article.
Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells.
Lang S, Benedix J, Fedeles SV, Schorr S, Schirra C, Schäuble N, Jalal C, Greiner M, Hassdenteufel S, Tatzelt J, Kreutzer B, Edelmann L, Krause E, Rettig J, Somlo S, Zimmermann R, Dudek J. Lang S, et al. Among authors: hassdenteufel s. J Cell Sci. 2012 Apr 15;125(Pt 8):1958-69. doi: 10.1242/jcs.096727. Epub 2012 Feb 28. J Cell Sci. 2012. PMID: 22375059 Free PMC article.
Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import.
Schorr S, Nguyen D, Haßdenteufel S, Nagaraj N, Cavalié A, Greiner M, Weissgerber P, Loi M, Paton AW, Paton JC, Molinari M, Förster F, Dudek J, Lang S, Helms V, Zimmermann R. Schorr S, et al. Among authors: hassdenteufel s. FEBS J. 2020 Nov;287(21):4612-4640. doi: 10.1111/febs.15274. Epub 2020 Mar 20. FEBS J. 2020. PMID: 32133789 Free article.
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