Associated Papers
Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.
Babaee M et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
Identification and molecular analysis of RNF31 Q622H germline polymorphism.
Nakazawa S et al.
Oncology Letters, 2022
A novel variant of RBCK1 gene causes mild polyglucosan myopathy.
AlAnzi T et al.
Neurosciences (riyadh, Saudi Arabia), 2022
Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.
Jahan AS et al.
Cell Death and Differentiation, 2021
MALT1-Dependent Cleavage of HOIL1 Modulates Canonical NF-κB Signaling and Inflammatory Responsiveness.
Fung SY et al.
Frontiers in Immunology, 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
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M et al.
Journal of Neurology, 2018
The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.
Hrdinka M et al.
Molecular Cell, 2017
Linear ubiquitin chains: enzymes, mechanisms and biology.
Rittinger K et al.
Open Biology, 2017
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B et al.
Nature Immunology, 2012
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