Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

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Authors

Marie Morimoto · University of British Columbia

Clara Myung · Child and Family Research Institute

Kimberly Beirnes · Child and Family Research Institute

Kunho Choi · University of British Columbia

Yumi Asakura · Kanagawa Children's Medical Center

Arend Bökenkamp · Amsterdam UMC Location Vrije Universiteit Amsterdam

Dominique Bonneau

Abstract

We conclude that increased Wnt and Notch activity result from SMARCAL1 deficiency and, as established causes of FSGS, contribute to the renal disease of most SIOD patients. This further clarifies the pathogenesis of SIOD and will hopefully direct potential therapeutic approaches for SIOD patients.

Topics & Keywords

Immunodeficiency and Autoimmune Disorders Neurogenetic and Muscular Disorders Research Cell Adhesion Molecules Research

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Orphanet Journal of Rare Diseases

Volume 11, Issue 1, pp. 149-149

DOI: 10.1186/s13023-016-0519-7

Field-Weighted Citation Impact: 3.73