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Comment
. 2018 Jun;67(6):2462-2464.
doi: 10.1002/hep.29708. Epub 2018 Apr 19.

Polycystic liver disease: The interplay of genes causative for hepatic and renal cystogenesis

Tatyana V Masyuk  1 , Anatoliy I Masyuk  1 , Nicholas F LaRusso  1
Affiliations
Comment

Polycystic liver disease: The interplay of genes causative for hepatic and renal cystogenesis

Tatyana V Masyuk et al. Hepatology. 2018 Jun.
No abstract available

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Conflict of interest statement

Conflict of interest: The authors have declared no conflicts of interest exist.

Figures

Fig. 1
Fig. 1
Polycystic liver disease (PLD): interactions of genes and proteins. (A). Hepatic cystogenesis in isolated PLD and in PLDs associated with either ADPKD or ARPKD could be triggered by mutation in nine genes. Mutations in PKHD1 cause ARPKD and isolated PLD; mutations in GANAB cause isolated PLD and ADPKD. Despite the genetic heterogeneity, all forms of PLD are characterized by the presence of multiple liver cysts. Scanning electron microscopic image shows the liver cysts in animal model of PLD, the PCK rat. (B). Schematic diagram depicts the site of localization of PLD-related proteins. Mutations in PLD-causative genes disrupt functional complexes formed by PLD-related proteins (i.e., PC-1 and PC-2; FC and PC-2) leading to hepatic cystogenesis. Proteins implicated in hepatic cystogenesis in isolated form of PLD are localized to ER where they involved in co- and posttranslational protein modifications. (C) Mutations in genes causative for isolated PLD lead to defective biogenesis of PC-1 resulting in its functional dosage. Abbreviations: PC – polycystin, FC-fibrocystin.
See this image and copyright information in PMC

Comment on

  • Isolated polycystic liver disease genes define effectors of polycystin-1 function.
    Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. J Clin Invest. 2017. PMID: 28375157 Free PMC article.

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Supplementary concepts