Associated Papers
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Zhu B et al.
Human Molecular Genetics, 2026
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
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
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
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
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
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J et al.
Annals of Neurology, 2013
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