A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

• Main Authors: Asude Durmaz (Author), Ayça Aykut (Author), Tahir Atik (Author), Samim Özen (Author), Durdugül Ayyıldız Emecen (Author), Aysun Ata (Author), Esra Işık (Author), Damla Gökşen (Author), Özgür Çoğulu (Author), Ferda Özkınay (Author)
• Format: Book
• Published: Galenos Yayincilik, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective:Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. CPE knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia, low bone mineral density and neurodevelopmental di...