WWOX-Related Neurodevelopmental Disorders: Models and Future Perspectives

Cells

Rami I. Aqeilan¹  Daniel J. Steinberg¹ 

[1] The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research-IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel;

关键词: WOREE syndrome;    SCAR12;    brain organoids;    knockout;    models;   

DOI  :  10.3390/cells10113082

来源: DOAJ

【 摘 要 】

The WW domain-containing oxidoreductase (WWOX) gene was originally discovered as a putative tumor suppressor spanning the common fragile site FRA16D, but as time has progressed the extent of its pleiotropic function has become apparent. At present, WWOX is a major source of interest in the context of neurological disorders, and more specifically developmental and epileptic encephalopathies (DEEs). This review article aims to introduce the many model systems used through the years to study its function and roles in neuropathies. Similarities and fundamental differences between rodent and human models are discussed. Finally, future perspectives and promising research avenues are suggested.

【 授权许可】

Unknown