Associated Papers
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
The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.
Hrdinka M et al.
Molecular Cell, 2017
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J et al.
Annals of Neurology, 2013
Select a paper to view details