A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes

MAPK activating death domain (MADD) is a multifunctional protein regulating small GTPases RAB3 and RAB27, MAPK signaling, and cell survival. Polymorphisms in the MADD locus are associated with glycemic traits, but patients with biallelic variants in MADD manifest a complex syndrome affecting nervous...

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Autors principals:	Kristiina Pulli, Jonna Saarimäki-Vire, Pekka Ahonen, Xiaonan Liu, Hazem Ibrahim, Vikash Chandra, Alice Santambrogio, Yafei Wang, Kirsi Vaaralahti, Anna-Pauliina Iivonen, Johanna Känsäkoski, Johanna Tommiska, Yasmine Kemkem, Markku Varjosalo, Sanna Vuoristo, Cynthia L. Andoniadou, Timo Otonkoski, Taneli Raivio
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Clinical investigation 2024-05-01
Col·lecció:	JCI Insight
Matèries:	Endocrinology Reproductive biology
Accés en línia:	https://doi.org/10.1172/jci.insight.167598
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