Akbari, Masaw West, Jonathan D Doerr, Nicholas Kipp, Kevin R Marhamati, Neda Vuong, Sabrina Wang, Yidi Rinschen, Markus M Talbot, Jeffrey J Wessely, Oliver
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Autosomal dominant polycystic kidney disease (ADPKD) affects more than 500,000 individuals in the United States alone. In most cases, ADPKD is caused by a loss-of-function mutation in the PKD1 gene, which encodes polycystin-1 (PC1). Previous studies reported that PC1 interacts with atypical protein kinase C (aPKC). Here we show that PC1 binds to th...
Strubl, Sebastian Oehm, Simon Torres, Jacob A Grundmann, Franziska Haratani, Jazmine Decker, Morgan Vuong, Sabrina Kaur Bhandal, Amrit Methot, Nils Haynie-Cion, Rhianna
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BackgroundOur laboratory published the first evidence that nutritional ketosis, induced by a ketogenic diet (KD) or time-restricted diet (TRD), ameliorates disease progression in polycystic kidney disease (PKD) animal models. We reasoned that, due to their frequent use for numerous health benefits, some autosomal dominant PKD (ADPKD) patients may a...
Tonum, Kanlayanee Srimai, Nipitpon Chabang, Napason Fongsupa, Somsak Tuchinda, Patoomratana Torres, Jacob A Weimbs, Thomas Soodvilai, Sunhapas
Renal cyst expansion in polycystic kidney disease (PKD) involves abnormalities in both cyst-lining-cell proliferation and fluid accumulation. Suppression of these processes may retard the progression of PKD. Evidence suggests that the activation of 5' AMP-activated protein kinase (AMPK) inhibits cystic fibrosis transmembrane conductance regulator (...
Sudarikova, Anastasia V. Vasileva, Valeriia Y. Sultanova, Regina F. Ilatovskaya, Daria V.
Published in
Clinical Science (London, England : 1979)
This review focuses on the most recent advances in the understanding of the electrolyte transport-related mechanisms important for the development of severe inherited renal disorders, autosomal dominant (AD) and recessive (AR) forms of polycystic kidney disease (PKD). We provide here a basic overview of the origins and clinical aspects of ARPKD and...
Benz, Eric G Hartung, Erum A
Published in
Pediatric nephrology (Berlin, Germany)
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are characterized by bilateral cystic kidney disease leading to progressive kidney function decline. These diseases also have distinct liver manifestations. The range of clinical presentation and severity of both ADPKD and ARPKD is much wi...
Shukoor, Shehbaz S. Vaughan, Lisa E. Edwards, Marie E. Lavu, Sravanthi Kline, Timothy L. Senum, Sarah R. Mkhaimer, Yaman Zaatari, Ghaith Irazabal, Maria V. Neal, Reem
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Published in
Kidney International Reports
Dafinger, Claudia Mandel, Amrei M Braun, Alina Göbel, Heike Burgmaier, Kathrin Massella, Laura Mastrangelo, Antonio Dötsch, Jörg Benzing, Thomas Weimbs, Thomas
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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 tr...
Akbari, Masaw
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder associated with severe morbidity which affects over 500,000 individuals in the U.S. alone. In most cases ADPKD is caused by a loss-of-function mutation in the PKD1 gene that encodes polycystin-1 (PC1). While PC1 has been ascribed to regulating numerous signaling pathways tha...
Wu, Zong-Ye Chiu, Chun-Lung Lo, Ethan Lee, Yuh-Ru Julie Yamada, Soichiro Lo, Su Hao
Cystic kidney disease is the progressive development of multiple fluid-filled cysts that may severely compromise kidney functions and lead to renal failure. TNS1 (tensin-1) knockout mice develop cystic kidneys and die from renal failure. Here, we have established TNS1-knockout MDCK cells and applied 3D culture system to investigate the mechanism le...
Friend, Brian D Wolfe Schneider, Kami Garrington, Timothy Truscott, Laurel Martinez-Agosto, Julian A Venick, Robert S Tsai Chambers, Eileen Weng, Patricia Farmer, Douglas G Chang, Vivian Y
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BackgroundPolycystic kidney disease (PKD) is an inherited condition characterized by progressive development of end-stage renal disease, hypertension, hepatic fibrosis, and cysts in the kidney, liver, pancreas, spleen, thyroid, and epididymis. While malignancies have been reported in association with PKD in adults, the incidence of malignancies in ...