Functional Evidence of
CCDC186 mutations
DCVs
dense-core vesicles
growth hormone deficiency
hypomyelination
low levels of cortisol
low levels of insulin
non-ketotic hypoglycemia
seizures
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
01 Aug 2023
01 Aug 2023
Historique:
received:
05
07
2023
revised:
29
07
2023
accepted:
30
07
2023
medline:
14
8
2023
pubmed:
12
8
2023
entrez:
12
8
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 37569695
pii: ijms241512319
doi: 10.3390/ijms241512319
pmc: PMC10419233
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI19/01310 and PI22/00856
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