AUTHOR=Gjervan Sophia C. , Ozgoren Oguz K. , Gow Alexander , Stockler-Ipsiroglu Sylvia , Pouladi Mahmoud A. TITLE=Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility JOURNAL=Frontiers in Cellular Neuroscience VOLUME=17 YEAR=2024 URL=https://www.frontiersin.org/journals/cellular-neuroscience/articles/10.3389/fncel.2023.1344090 DOI=10.3389/fncel.2023.1344090 ISSN=1662-5102 ABSTRACT=

Claudin-11 plays a critical role in multiple physiological processes, including myelination, auditory function, and spermatogenesis. Recently, stop-loss mutations in CLDN11 have been identified as a novel cause of hypomyelinating leukodystrophy (HLD22). Understanding the multifaceted roles of claudin-11 and the potential pathogenic mechanisms in HLD22 is crucial for devising targeted therapeutic strategies. This review outlines the biological roles of claudin-11 and the implications of claudin-11 loss in the context of the Cldn11 null mouse model. Additionally, HLD22 and proposed pathogenic mechanisms, such as endoplasmic reticulum stress, will be discussed.