Associated Papers
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Zhu B et al.
Human Molecular Genetics, 2026
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.
Jahan AS et al.
Cell Death and Differentiation, 2021
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 et al.
Journal of Inherited Metabolic Disease, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.
Hrdinka M et al.
Molecular Cell, 2017
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B et al.
Nature Immunology, 2012
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