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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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Principais autores: 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: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021-12-01
Serier:Frontiers in Medicine
Fag:
ARPKD
exosome
lysosome
mosaicism
PKHD1
mitochondria
Online adgang:https://www.frontiersin.org/articles/10.3389/fmed.2021.743150/full
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