Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference9 articles.
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;J. Inherit. Metab. Dis.,2020
2. HOIL-1 ubiquitin ligase activity targets unbranched glucosaccharides and is required to prevent polyglucosan accumulation;Kelsall;EMBO J.,2022
3. Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency;Nitschke;Brain,2022
4. SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis;Ikeda;Nature,2011
5. Mutual regulation of conventional protein kinase C and a ubiquitin ligase complex;Nakamura;Biochem. Biophys. Res. Commun.,2006
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