Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

Ning, Ke; Song, Emilie; E. Sendayen, Brent; P. Prosseda, Philipp; Chang, Kun‐Che; Ghaffarieh, Alireza; A. Alvarado, Jorge; Wang, Biao; M. Haider, Kathryn; F. Berbari, Nicolas; Hu, Yang; Sun, Yang

doi:10.1002/mgg3.1566

Public

Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

Published in Molecular Genetics & Genomic Medicine • Dec 11, 2020

Authors:

Ke Ning

Emilie Song

Brent E. Sendayen

Abstract

BACKGROUND: Senior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease and progressive blindness. The most frequent cause of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. NPH...

Subject

Nephronophthisis

Cilium

Biology

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!