TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation

Multiple loss‐of‐function mutations in TRIAD3 (a.k.a. RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. TRIAD3A is an E3 ubiquitin ligase that recognizes and facilitates the ubiquitinat...

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Detalles Bibliográficos
Autores principales: Husain, Nilofer, Yuan, Qiang, Yen, Yi‐Chun, Pletnikova, Olga, Sally, Dong Qianying, Worley, Paul, Bichler, Zoë, Shawn Je, H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334534/
https://www.ncbi.nlm.nih.gov/pubmed/27995769
http://dx.doi.org/10.1111/acel.12551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334534/
https://www.ncbi.nlm.nih.gov/pubmed/27995769
http://dx.doi.org/10.1111/acel.12551

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