Associated Papers
Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.
Xu W et al.
Cell Biochemistry and Function, 2024
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.
Wu C et al.
Journal of Medical Genetics, 2024
Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.
Chen KL et al.
Journal of Molecular Neuroscience : Mn, 2022
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.
Calandra CR et al.
Movement Disorders Clinical Practice, 2019
TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome.
Schwintzer L et al.
Cell Death Discovery, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.
Husain N et al.
Aging Cell, 2017
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
Santens P et al.
Neurology, 2015
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