Associated Papers
RNF216 variants found in patients with dementia, hypogonadotropic hypogonadism and severe ataxia deregulate autophagy.
Young J et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.
Wu C et al.
Journal of Medical Genetics, 2024
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
Durmaz Çelik N et al.
Bmc Medical Genomics, 2023
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
36407308 (PubMed )
Supplement: Table_1.docx
Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.
Seenivasan R et al.
Human Molecular Genetics, 2019
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
Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.
Ronnebaum SM et al.
Human Genome Variation, 2014
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
Margolin DH et al.
The New England Journal of Medicine, 2013
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