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https://www.readbyqxmd.com/read/28904368/polycystin-1-inhibits-eif2%C3%AE-phosphorylation-and-cell-apoptosis-through-a-pkr-eif2%C3%AE-pathway
#1
Yan Tang, Zuocheng Wang, JungWoo Yang, Wang Zheng, Di Chen, Guanqing Wu, Richard Sandford, Jingfeng Tang, Xing-Zhen Chen
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2 which encodes polycystin-1 (PC1) and polycystin-2, respectively. PC1 was previously shown to slow cell proliferation and inhibit apoptosis but the underlying mechanisms remain elusive or controversial. Here we showed in cultured mammalian cells and Pkd1 knockout mouse kidney epithelial cells that PC1 and its truncation mutant comprising the last five transmembrane segments and the intracellular C-terminus (PC1-5TMC) down-regulate the phosphorylation of protein kinase R (PKR) and its substrate eukaryotic translation initiation factor 2 alpha (eIF2α)...
September 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28892094/deletion-of-pkd1-in-renal-stromal-cells-causes-defects-in-the-renal-stromal-compartment-and-progressive-cystogenesis-in-the-kidney
#2
Xuguang Nie, Lois J Arend
Autosomal dominant polycystic kidney disease (ADPKD), caused by PKD1 and PKD2 gene mutations, is one of the most common genetic diseases, affecting up to 1 in 500 people. Mutations of PKD1 account for over 85% of ADPKD cases. However, mechanisms of disease progression and explanations for the wide range in disease phenotype remain to be elucidated. Moreover, functional roles of PKD1 in the renal stromal compartment are poorly understood. In this work, we tested if Pkd1 is essential for development and maintenance of the renal stromal compartment and if this role contributes to pathogenesis of polycystic kidney disease using a novel tissue-specific knockout mouse model...
September 11, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28887310/histone-deacetylase-6-inhibition-reduces-cysts-by-decreasing-via-camp-and-ca2-in-knockout-mouse-models-of-polycystic-kidney-disease
#3
Murali K Yanda, Qiangni Liu, Valeriu Cebotaru, William B Guggino, Liudmila Cebotaru
Autosomal dominant polycystic kidney disease (ADPKD) is associated with progressive en-largement of multiple renal cysts, often leading to renal failure which cannot be prevented by an current treatment. Two proteins encoded by two genes are associated with ADPKD, PC1 (pkd1), primarily a signaling molecule, and PC2 (pkd2), a Ca2+ channel. Dysregulation of cAMP signaling is central to ADPKD but the molecular mechanism is unresolved. Here we studied the role of histone deacetylase 6 (HDAC6) in regulating cyst growth to test the possibility that in-hibiting HDAC6 might help manage ADPKD...
September 8, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28870863/use-of-targeted-sequence-capture-and-high-throughput-sequencing-identifies-a-novel-pkd1-mutation-involved-in-adult-polycystic-kidney-disease
#4
Yan-Kun Sha, Yan-Wei Sha, Li-Bin Mei, Xian-Jing Huang, Xu Wang, Shao-Bin Lin, Lin Li, Ping Li
Polycystic kidney disease (PKD) is a common inherited disease that is characterized by a progressive development of renal cysts. Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKD1 and PKD2 genes, we identified a novel heterozygous frameshift mutation c.3976_3977insCT (p.F1326Sfs*21) in the PKD1 gene that segregated between affected and unaffected family members...
September 1, 2017: Gene
https://www.readbyqxmd.com/read/28839241/leukocyte-trp-channel-gene-expressions-in%C3%A2-patients-with-non-valvular-atrial-fibrillation
#5
Irfan V Düzen, Fethi Yavuz, Ertan Vuruskan, Erhan Saracoglu, Fatih Poyraz, Hüseyin Göksülük, Basar Candemir, Seniz Demiryürek
Atrial fibrillation (AF) is the most common arrhythmia in clinical practice and is a major cause of morbidity and mortality. The upregulation of TRP channels is believed to mediate the progression of electrical remodelling and the arrhythmogenesis of the diseased heart. However, there is limited data about the contribution of the TRP channels to development of AF. The aim of this study was to investigate leukocyte TRP channels gene expressions in non-valvular atrial fibrillation (NVAF) patients. The study included 47 NVAF patients and 47 sex and age matched controls...
August 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28827467/teaching-neuroimages-huge-carotid-artery-aneurysm-in-tsc2-pkd1-contiguous-gene-syndrome
#6
Bow Wang, Yi-Fang Tu, Yi-Shan Tsai
No abstract text is available yet for this article.
August 22, 2017: Neurology
https://www.readbyqxmd.com/read/28827396/genetic-diagnosis-of-polycystic-kidney-disease-alport-syndrome-and-thalassemia-minor-in-a-large-chinese-family
#7
Yun Miao, Jun Xiong, Xuelian Zhang, Huajie Huang, Lixin Yu, Jianfan Chen, Wenfeng Deng, Huiling Xu, Rumin Liu, Xiangmin Xu, Chenglin Xiang, Fu Xiong
Background : Polycystic kidney disease (PKD) and Alport syndrome (AS) are serious inherited disorders associated with renal disease, and thalassemia is a hereditary blood disease with a high prevalence in south China. Here, we report an exceptional PKD coincidence of thalassemia minor and AS (diagnosed genetically) in a large Chinese family. Methods : Whole genome next-generation sequencing (NGS) was performed on the proband and all family members underwent clinical evaluations. Sanger sequencing was used to validate the mutations distinguished by NGS...
August 21, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28826940/distinct-oxylipin-alterations-in-diverse-models-of-cystic-kidney-diseases
#8
Md Monirujjaman, Jessay G Devassy, Tamio Yamaguchi, Nikhil Sidhu, Masanori Kugita, Melissa Gabbs, Shizuko Nagao, Jing Zhou, Amir Ravandi, Harold M Aukema
Cystic kidney diseases are characterized by multiple renal cysts and are the leading cause of inherited renal disease. Oxylipins are bioactive lipids derived from fatty acids formed via cyclooxygenase, lipoxygenase and cytochrome P450 activity, and are important regulators of renal health and disease. Oxylipins are altered in nephronophthisis, a type of cystic kidney disease. To further investigate and to determine whether other cystic renal diseases share these abnormalities, a targeted lipidomic analysis of renal oxylipins was performed in orthologous models of autosomal dominant polycystic kidney disease 1 (Mx1Cre(+)Pkd1(flox/flox) mouse) and 2 (Pkd2(ws25/-) mouse), autosomal recessive polycystic kidney disease (PCK rat) and nephronophthisis (jck/jck mouse)...
August 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28802235/steviol-stabilizes-polycystin-1-expression-and-promotes-lysosomal-degradation-of-cftr-and-%C3%AE-catenin-proteins-in-renal-epithelial-cells
#9
Chaowalit Yuajit, Chatchai Muanprasat, Sureeporn Homvisasevongsa, Varanuj Chatsudthipong
Malfunction of polycystin 1 (PC1) is linked to abnormally high epithelial cell proliferation and fluid secretion, eventually leading to renal cyst development and declined renal function as found in autosomal dominant polycystic kidney disease (ADPKD). Currently, there is no effective therapy for ADPKD. Recent studies report PC1 regulates CFTR chloride channels and β-catenin levels in normal renal epithelial cells. Concurrently, our previous study found steviol retarded renal cyst enlargement in an in vitro and in an in vivo models by reducing CFTR expression and activity...
August 9, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28792715/mutational-screening-of-pkd1-and-pkd2-genes-in-iranian-population-diagnosed-with-autosomal-dominant-polycystic-kidney-disease
#10
Fariba Ranjzad, Ahmad Tara, Abbas Basiri, Nasser Aghdami, Reza Moghadasali
BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most frequent cause of endstage renal disease (ESDR), occurring at a varying frequency of 1/400 to 1/800 persons. The disease affects all ethnic groups worldwide, and there is a need for population based studies to be carried out for better diagnostic, genetic counselling, and treatment purpose. METHODS: Eighteen unrelated probands (10 males and 8 females) with a familial history of ADPKD were selected for the study...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28782656/genetics-and-mechanisms-of-hepatic-cystogenesis
#11
REVIEW
L F M van de Laarschot, J P H Drenth
Polycystic liver disease (PLD) is a heterogeneous genetic condition. PKD1 and PKD2 germline mutations are found in patients with autosomal dominant polycystic kidney disease (ADPKD). Autosomal dominant polycystic liver disease (ADPLD) is associated with germline mutations in PRKCSH, SEC63, LRP5, and recently ALG8, and SEC61. GANAB mutations are found in both patient groups. Loss of heterozygosity of PLD-genes in cyst epithelium contributes to the development of hepatic cysts. A genetic interaction network is implied in hepatic cystogenesis that connects the endoplasmic glycoprotein control mechanisms and polycystin expression and localization...
August 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28769124/metformin-inhibits-cyst-formation-in-a-zebrafish-model-of-polycystin-2-deficiency
#12
Ming-Yang Chang, Tsu-Lin Ma, Cheng-Chieh Hung, Ya-Chung Tian, Yung-Chang Chen, Chih-Wei Yang, Yi-Chuan Cheng
Autosomal dominant polycystic kidney disease (ADPKD) is a common kidney disease caused by mutations in PKD1 or PKD2. Metformin reduces cyst growth in mouse models of PKD1. However, metformin has not been studied in animal models of PKD2, and the cellular mechanism underlying its effectiveness is not entirely clear. This study investigated the effects of metformin on cyst formation in a zebrafish model of polycystin-2 deficiency resulting from morpholino knockdown of pkd2. We added metformin (2.5 to 20 mM) to the embryo media between 4 and 48 hours post fertilisation and observed pronephric cyst formation by using the wt1b promoter-driven GFP signal in Tg(wt1b:GFP) pkd2 morphants...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28762163/polycystin-2-dependent-cardio-protective-mechanisms-revealed-by-cardiac-stress
#13
Esther Giehl, Fernanda O Lemos, Yan Huang, Frank J Giordano, Ivana Y Kuo, Barbara E Ehrlich
Although autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple kidney cysts, the most frequent cause of death in ADPKD patients is cardiovascular disease. ADPKD is linked to mutations in PKD1 or pkd2, the genes that encode for the proteins polycystin 1 and polycystin 2 (PC1 and PC2, respectively). The cardiovascular complications have been assumed to be a consequence of renal hypertension and activation of renin/angiotensin/aldosterone (RAAS) pathway. However, the expression of PC1 and PC2 in cardiac tissue suggests additional direct effects of these proteins on cardiac function...
July 31, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28747357/an-inhibitor-of-histone-deacetylase-6-activity-acy-1215-reduces-camp-and-cyst-growth-in-polycystic-kidney-disease
#14
Murali Krishna Yanda, Qiangni Liu, Liudmila Cebotaru
Adult-onset autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either the PKD1 or PKD2 gene, leading to malfunction of their gene products, polycystin 1 or 2. Histone deacetylase 6 (HDAC6) expression and activity are increased in PKD1-mutant renal epithelial cells. Here we studied the effect of ACY-1215, a specific HDAC6 inhibitor, on cyst growth in ADPKD. Treatment with ACY-1215 slowed cyst growth in a mouse model of ADPKD that forms massive cysts within 3 weeks after knockout of polycystin 1 function...
July 26, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28724316/molecular-diagnosis-of-autosomal-dominant-polycystic-kidney-disease
#15
Xuewen Song, Amirreza Haghighi, Ioan-Andrei Iliuta, York Pei
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5-10% of end-stage renal disease in developed countries. Mutations in PKD1 and PKD2 account for a majority of cases. Mutation screening of PKD1 is technically challenging largely due to the complexity resulting from duplication of its first 33 exons in six highly homologous pseudogenes (i.e. PKD1P1-P6). Protocol using locus-specific long-range and nested PCR has enabled comprehensive PKD1 mutation screening but is labor-intensive and costly...
October 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28722750/protein-kinase-d-exerts-neuroprotective-functions-during-oxidative-stress-via-nuclear-factor-kappab-independent-signaling-pathways
#16
Hanna Liliom, Krisztián Tárnok, Zsófia Ábrahám, Bence Rácz, Angelika Hausser, Katalin Schlett
Members of the protein kinase D (PKD) family of serine/threonine kinases are known to exert diverse roles in neuronal stress responses. Here we show the transient activation and nuclear translocation of endogenous PKD upon oxidative stress induced by H2 O2 treatment in primary neuronal cultures. Using pharmacological inhibition we show that PKD activity protects neurons from oxidative stress induced cell death. Although members of the canonical NFκB pathway were phosphorylated upon H2 O2 treatment, it was found that the neuronal response to oxidative stress is not executed through the nuclear translocation and activity of RelA...
July 19, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28709963/animal-models-of-biliary-injury-and-altered-bile-acid-metabolism
#17
REVIEW
Valeria Mariotti, Mario Strazzabosco, Luca Fabris, Diego F Calvisi
In the last 25years, a number of animal models, mainly rodents, have been generated with the goal to mimic cholestatic liver injuries and, thus, to provide in vivo tools to investigate the mechanisms of biliary repair and, eventually, to test the efficacy of innovative treatments. Despite fundamental limitations applying to these models, such as the distinct immune system and the different metabolism regulating liver homeostasis in rodents when compared to humans, multiple approaches, such as surgery (bile duct ligation), chemical-induced (3,5-diethoxycarbonyl-1,4-dihydrocollidine, DDC, α-naphthylisothiocyanate, ANIT), viral infections (Rhesus rotavirustype A, RRV-A), and genetic manipulation (Mdr2, Cftr, Pkd1, Pkd2, Prkcsh, Sec63, Pkhd1) have been developed...
July 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28701314/cux1-promotes-cell-proliferation-and-polycystic-kidney-disease-progression-in-an-adpkd-mouse-model
#18
Binu Porath, Safia Livingston, Erica L Andres, Alexandra M Petrie, Joshua C Wright, Anna E Woo, Carol G Carlton, Richard Baybutt, Gregory B Vanden Heuvel
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic hereditary disorders in humans characterized by fluid-filled cysts, primarily in the kidneys. Cux1, a cell cycle regulatory gene highly expressed during kidney development, is elevated in the cyst-lining cells of Pkd1 mutant mice, and in human ADPKD cells. However, forced expression of Cux1 is insufficient to induce cystic disease in transgenic mice, or to induce rapid cyst formation after cilia disruption in the kidneys of adult mice...
July 12, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28682033/-adpkd-and-heart
#19
Francesca Liut, Claudia Izzi, Nadia Dallera, Francesco Scolari
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal parenchyma and development of End Stage Renal Disease (ESRD) in about 50% of affected individuals at the age of 60 years. Extrarenal disease usually involves the liver, heart and vasculature...
March 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28679762/aav-serotypes-have-distinctive-interactions-with-domains-of-the-cellular-receptor-aavr
#20
Sirika Pillay, Wei Zou, Fang Cheng, Andreas S Puschnik, Nancy L Meyer, Safder S Ganaie, Xuefeng Deng, Jonathan E Wosen, Omar Davulcu, Ziying Yan, John F Engelhardt, Kevin E Brown, Michael S Chapman, Jianming Qiu, Jan E Carette
Adeno-associated virus (AAV) entry is determined by its interactions with specific surface glycans and proteinaceous receptor(s). Adeno-associated virus receptor (AAVR; also named KIAA0319L) is an essential cellular receptor required for the transduction of vectors derived from multiple AAV serotypes including the evolutionary distant serotypes, AAV2 and AAV5. Here, we further biochemically characterize the AAV-AAVR interaction and define the domains within the ectodomain of AAVR that facilitate this interaction...
July 5, 2017: Journal of Virology
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