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Article

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.

Scientific reports - 10 Aug 2017

Kaimori Jun-Ya, Lin Cheng-Chao, Outeda Patricia, Garcia-Gonzalez Miguel A, Menezes Luis F, Hartung Erum A, Li Ao, Wu Guanqing, Fujita Hideaki, Sato Yasunori, Nakanuma Yasuni, Yamamoto Satoko, Ichimaru Naotsugu, Takahara Shiro, Isaka Yoshitaka, Watnick Terry, Onuchic Luiz F, Guay-Woodford Lisa M, Germino Gregory G

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes are expressed in the kidney with dilatation of the collecting ducts, systemic hypertension, and progressive renal insufficiency, and in the liver with biliary dysgenesis, portal tract fibrosis, and portal hypertension. The systemic hypertension has been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Nedd4 Ubiquitin Protein Ligases

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Source

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Identifiers

PMID: 28798345
DOI: 10.1038/s41598-017-08284-4
PMCID: PMC5552802

Genes

PKHD1
NEDD4
NDFIP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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