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NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.
Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG. Kaimori JY, et al. Among authors: lin cc. Sci Rep. 2017 Aug 10;7(1):7733. doi: 10.1038/s41598-017-08284-4. Sci Rep. 2017. PMID: 28798345 Free PMC article.
A cleavage product of Polycystin-1 is a mitochondrial matrix protein that affects mitochondria morphology and function when heterologously expressed.
Lin CC, Kurashige M, Liu Y, Terabayashi T, Ishimoto Y, Wang T, Choudhary V, Hobbs R, Liu LK, Lee PH, Outeda P, Zhou F, Restifo NP, Watnick T, Kawano H, Horie S, Prinz W, Xu H, Menezes LF, Germino GG. Lin CC, et al. Sci Rep. 2018 Feb 9;8(1):2743. doi: 10.1038/s41598-018-20856-6. Sci Rep. 2018. PMID: 29426897 Free PMC article.