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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1997 1
2003 1
2005 1
2008 1
2011 3
2012 1
2013 3
2014 1
2017 1
2018 2
2020 1
2024 0

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PubMed (OMIM) for id: 10616

15 results

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Page 1
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
Phadke R, Hedberg-Oldfors C, Scalco RS, Lowe DM, Ashworth M, Novelli M, Vara R, Merwick A, Amer H, Sofat R, Sugarman M, Jovanovic A, Roberts M, Nakou V, King A, Bodi I, Jungbluth H, Oldfors A, Murphy E. Phadke R, et al. J Inherit Metab Dis. 2020 Sep;43(5):1002-1013. doi: 10.1002/jimd.12234. Epub 2020 Apr 16. J Inherit Metab Dis. 2020. PMID: 32187699 Review.
LUBAC is essential for embryogenesis by preventing cell death and enabling haematopoiesis.
Peltzer N, Darding M, Montinaro A, Draber P, Draberova H, Kupka S, Rieser E, Fisher A, Hutchinson C, Taraborrelli L, Hartwig T, Lafont E, Haas TL, Shimizu Y, Böiers C, Sarr A, Rickard J, Alvarez-Diaz S, Ashworth MT, Beal A, Enver T, Bertin J, Kaiser W, Strasser A, Silke J, Bouillet P, Walczak H. Peltzer N, et al. Nature. 2018 May;557(7703):112-117. doi: 10.1038/s41586-018-0064-8. Epub 2018 Apr 25. Nature. 2018. PMID: 29695863 Free PMC article.
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Krenn M, et al. J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260357 Free PMC article.
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A. Nilsson J, et al. Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963. Ann Neurol. 2013. PMID: 23798481 Free article.
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. Boisson B, et al. Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28. Nat Immunol. 2012. PMID: 23104095 Free PMC article.
SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis.
Ikeda F, Deribe YL, Skånland SS, Stieglitz B, Grabbe C, Franz-Wachtel M, van Wijk SJ, Goswami P, Nagy V, Terzic J, Tokunaga F, Androulidaki A, Nakagawa T, Pasparakis M, Iwai K, Sundberg JP, Schaefer L, Rittinger K, Macek B, Dikic I. Ikeda F, et al. Nature. 2011 Mar 31;471(7340):637-41. doi: 10.1038/nature09814. Nature. 2011. PMID: 21455181 Free PMC article.
Linear ubiquitination prevents inflammation and regulates immune signalling.
Gerlach B, Cordier SM, Schmukle AC, Emmerich CH, Rieser E, Haas TL, Webb AI, Rickard JA, Anderton H, Wong WW, Nachbur U, Gangoda L, Warnken U, Purcell AW, Silke J, Walczak H. Gerlach B, et al. Nature. 2011 Mar 31;471(7340):591-6. doi: 10.1038/nature09816. Nature. 2011. PMID: 21455173
15 results