Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes

Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes

Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1). However, the genetic cause, pathologic features, and mechanism of action of ARPKD are not well known. Here, we identified a family with ARPKD....

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Bibliographic Details
Main Authors: Chengxian Xu, Chenxi Yang, Qing Ye, Jie Xu, Lingxiao Tong, Yuchen Zhang, Huijun Shen, Zhihong Lu, Jingjing Wang, Enyin Lai, Jianhua Mao, Pingping Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Medicine
Subjects:
ARPKD
exosome
lysosome
mosaicism
PKHD1
mitochondria
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2021.743150/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2021.743150/full

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