<i>RNF216</i> Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy
Our results suggest that alteration of RNF216 function leads to cell death through an autophagy-mediated mechanism which contributes to combined HH and ataxia and dementia in affected patients.
Authors
- F Magnin
- Luigi Maione (ORCID: https://orcid.org/0000-0001-8526-8046)
- Jérôme Bouligand (ORCID: https://orcid.org/0000-0002-8691-9469)
- Larbi Amazit (ORCID: https://orcid.org/0000-0003-1137-8722)
- Isabelle Beau (ORCID: https://orcid.org/0000-0002-3352-6813)
- Inès Abdennebi (ORCID: https://orcid.org/0000-0002-7501-287X)
- Jacques Young (ORCID: https://orcid.org/0000-0001-9286-5631)
- Peter Kamenický (ORCID: https://orcid.org/0000-0002-1994-4226)
- Marion Le Saëc
Institutions
- Inserm (FR)
- Université Paris-Saclay (FR)
- Bicêtre Hospital (FR)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1210/clinem/dgaf640
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.91