Associated Papers
N-Terminal deleted isoforms of E3 ligase RNF220 are ubiquitously expressed and required for mouse muscle differentiation.
Choi S et al.
Molecules and Cells, 2025
Overview of genetic variants in a cohort of Iranian patients with leukodystrophy.
Fathi M et al.
Scientific Reports, 2025
RNF220-mediated K63-linked polyubiquitination stabilizes Olig proteins during oligodendroglial development and myelination.
Li Y et al.
Science Advances, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.
Yan H et al.
Brain : a Journal of Neurology, 2022
RNF220 is an E3 ubiquitin ligase for AMPA receptors to regulate synaptic transmission.
Ma P et al.
Science Advances, 2022
The many faces of the E3 ubiquitin ligase, RNF220, in neural development and beyond.
Ma P et al.
Development, Growth & Differentiation, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A et al.
Brain : a Journal of Neurology, 2021
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