Wolfram Syndrome 1: A Pediatrician’s and Pediatric Endocrinologist’s Perspective

Wolfram Syndrome 1: A Pediatrician’s and Pediatric Endocrinologist’s Perspective

Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease caused by mutations in <i>WFS1</i> and <i>WFS2</i> genes that produce wolframin, a protein involved in endoplasmic reticulum calcium homeostasis and cellular apoptosis. Its main clinical features...

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Bibliographic Details
Main Authors: Anastasios Serbis, Dimitrios Rallis, Vasileios Giapros, Assimina Galli-Tsinopoulou, Ekaterini Siomou
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:International Journal of Molecular Sciences
Subjects:
Wolfram syndrome 1
diabetes mellitus
diabetes insipidus
endoplasmic reticulum dysfunction
Online Access:https://www.mdpi.com/1422-0067/24/4/3690

Internet

https://www.mdpi.com/1422-0067/24/4/3690

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