Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

CCDC186 protein is involved in the maturation of dense-core vesicles (DCVs) in the trans-Golgi network in neurons and endocrine cells. Mutations in genes involved in DCV regulation, other than CCDC186, have been described in patients with neurodevelopmental disorders. To date, only one patient, with...

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Detalles Bibliográficos
Autores principales: Arrabal, Luisa, Muñoz-Pujol, Gerard, Medina Martínez, Inmaculada, Gort, Laura, García-Villoria, Judit, Roldán, Susana, Tort, Frederic, Ribes, Antonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419233/
https://www.ncbi.nlm.nih.gov/pubmed/37569695
http://dx.doi.org/10.3390/ijms241512319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419233/
https://www.ncbi.nlm.nih.gov/pubmed/37569695
http://dx.doi.org/10.3390/ijms241512319

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