@article{a97cee9d8126403eb4b8bb2136cc8c1f,
title = "The carboxy-terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC-activation",
abstract = "Autosomal recessive polycystic kidney disease (ARPKD) is mainly caused by variants in the PKHD1 gene, encoding fibrocystin (FC), a large transmembrane protein of incompletely understood cellular function. Here, we show that a C-terminal fragment of human FC can suppress a signalling module of the kinase SRC and signal transducer and activator of transcription 3 (STAT3). Consistently, we identified truncating genetic variants specifically affecting the cytoplasmic tail in ARPKD patients, found SRC and the cytoplasmic tail of fibrocystin in a joint dynamic protein complex and observed increased activation of both SRC and STAT3 in cyst-lining renal epithelial cells of ARPKD patients.",
keywords = "cilia, genetic kidney diseases, polycystic kidney disease",
author = "Claudia Dafinger and Mandel, {Amrei M.} and Alina Braun and Heike G{\"o}bel and Kathrin Burgmaier and Laura Massella and Antonio Mastrangelo and J{\"o}rg D{\"o}tsch and Thomas Benzing and Thomas Weimbs and Bernhard Schermer and Liebau, {Max C.}",
note = "Funding Information: The authors thank Stefanie Keller, Ruth Herzog and Martyna Br{\"u}tting for excellent technical assistance. We thank the CECAD Imaging facility for outstanding technical support. This study was supported by the Deutsche Forschungsgemeinschaft (SCHE 1562/6 to BS and LI 2397 5/1 to MCL). CD, AMM and AB were supported by Koeln Fortune Grants. KB was supported by the Koeln Fortune program and the GEROK program of the Medical Faculty of University of Cologne and the Marga and Walter Boll‐Foundation TW was supported by grants from the National Institutes of Health (DK109563, DK62338) and a gift from the Amy P. Goldman Foundation. MCL was supported by a Koeln Fortune Grant and the GEROK program of the Medical Faculty of the University of Cologne, and by the Marga and Walter Boll‐Stiftung. MCL and BS are supported by the German Federal Ministry for Education and Research (NEOCYST consortium FKZ 01GM1515E and FKZ 01GM1903B). Several authors of this publication are members of the European Reference Network for Rare Kidney Diseases (ERKNet)– Project ID No 739532. Open access funding enabled and organized by Projekt DEAL. Publisher Copyright: {\textcopyright} 2020 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = dec,
doi = "10.1111/jcmm.16014",
language = "English",
volume = "24",
pages = "14633--14638",
journal = "Journal of Cellular and Molecular Medicine",
issn = "1582-1838",
publisher = "Wiley-Blackwell",
number = "24",
}