Mosaic PKHD1 variants in polycystic kidney caused aberrant protein profiling of mitochondria and lysosomes

ABSTRACT: Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease mainly caused by PKHD1. However, its genetic cause, pathological features, and mechanism remained unsolved. Our findings may provide new insight on the pathophysiology of the polycystic kidney due to PKHD1 deficiency, and the PKHD1 mosaicism needs to be taken close attention in genetic testing of ARPKD.

ORGANISM(S): Homo Sapiens

SUBMITTER: Pingping Jiang  

PROVIDER: PXD028042 | iProX | Fri Aug 20 00:00:00 BST 2021

REPOSITORIES: iProX