Article
RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy.
The Journal of clinical endocrinology and metabolism - 22 Apr 2026
Young Jacques, Abdennebi Inès, Le Saëc Marion, Magnin Françoise, Amazit Larbi, Kamenický Peter, Maione Luigi, Bouligand Jérôme, Beau Isabelle
Abstract excerpt
CONTEXT: Hypogonadotropic hypogonadism (HH) with severe ataxia, impotence, and dementia has been reported in a handful of patients carrying RNF216 gene variants. However, the underlying molecular mechanism explaining this complex phenotype remains unclear to date. RNF216 encodes a "RING-between-RING"(RBR)-class E3 ubiquitin ligase. Among the targets of RNF216 is Beclin-1, a pivotal regulator of autophagy,...
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