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Zebrafish disease modelling

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https://www.readbyqxmd.com/read/28087321/enteric-nervous-system-development-a-crest-cell-s-journey-from-neural-tube-to-colon
#1
REVIEW
Nandor Nagy, Allan M Goldstein
The enteric nervous system (ENS) is comprised of a network of neurons and glial cells that are responsible for coordinating many aspects of gastrointestinal (GI) function. These cells arise from the neural crest, migrate to the gut, and then continue their journey to colonize the entire length of the GI tract. Our understanding of the molecular and cellular events that regulate these processes has advanced significantly over the past several decades, in large part facilitated by the use of rodents, avians, and zebrafish as model systems to dissect the signals and pathways involved...
January 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28080960/myogenic-regulatory-transcription-factors-regulate-growth-in-rhabdomyosarcoma
#2
Inês M Tenente, Madeline N Hayes, Myron S Ignatius, Karin McCarthy, Marielle Yohe, Sivasish Sindiri, Berkley Gryder, Mariana L Oliveira, Ashwin Ramakrishnan, Qin Tang, Eleanor Y Chen, G Petur Nielsen, Javed Khan, David M Langenau
Rhabdomyosarcoma (RMS) is a pediatric malignacy of muscle with myogenic regulatory transcription factors MYOD and MYF5 being expressed in this disease. Consensus in the field has been that expression of these factors likely reflects the target cell of transformation rather than being required for continued tumor growth. Here, we used a transgenic zebrafish model to show that Myf5 is sufficient to confer tumor-propagating potential to RMS cells and caused tumors to initiate earlier and have higher penetrance...
January 12, 2017: ELife
https://www.readbyqxmd.com/read/28073927/new-insights-into-the-genetics-of-primary-open-angle-glaucoma-based-on-meta-analyses-of-intraocular-pressure-and-optic-disc-characteristics
#3
Henriët Springelkamp, Adriana I Iglesias, Aniket Mishra, René Höhn, Robert Wojciechowski, Anthony P Khawaja, Abhishek Nag, Ya Xing Wang, Jie Jin Wang, Gabriel Cuellar-Partida, Jane Gibson, Jessica N Cooke Bailey, Eranga N Vithana, Puya Gharahkhani, Thibaud Boutin, Wishal D Ramdas, Tanja Zeller, Robert N Luben, Ekaterina Yonova-Doing, Ananth C Viswanathan, Seyhan Yazar, Angela J Cree, Jonathan L Haines, Jia Yu Koh, Emmanuelle Souzeau, James F Wilson, Najaf Amin, Christian Müller, Cristina Venturini, Lisa S Kearns, Jae Hee Kang, Neighborhood Consortium, Yih Chung Tham, Tiger Zhou, Elisabeth M van Leeuwen, Stefan Nickels, Paul Sanfilippo, Jiemin Liao, Herma van der Linde, Wanting Zhao, Leonieke M E van Koolwijk, Li Zheng, Fernando Rivadeneira, Mani Baskaran, Sven J van der Lee, Shamira Perera, Paulus T V M de Jong, Ben A Oostra, André G Uitterlinden, Qiao Fan, Albert Hofman, E- Shyong Tai, Johannes R Vingerling, Xueling Sim, Roger C W Wolfs, Yik Ying Teo, Hans G Lemij, Chiea Chuen Khor, Rob Willemsen, Karl J Lackner, Tin Aung, Nomdo M Jansonius, Grant Montgomery, Philipp S Wild, Terri L Young, Kathryn P Burdon, Pirro G Hysi, Louis R Pasquale, Tien Yin Wong, Caroline C W Klaver, Alex W Hewitt, Jost B Jonas, Paul Mitchell, Andrew J Lotery, Paul J Foster, Veronique Vitart, Norbert Pfeiffer, Jamie E Craig, David A Mackey, Christopher J Hammond, Janey L Wiggs, Ching-Yu Cheng, Cornelia M van Duijn, Stuart MacGregor
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increase risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup disc ratio (VCDR) and 1 new region associated with IOP...
January 10, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28070857/a-small-organic-compound-mimicking-the-l1-cell-adhesion-molecule-promotes-functional-recovery-after-spinal-cord-injury-in-zebrafish
#4
Sudhanshu Sahu, Zhihua Zhang, Rong Li, Junkai Hu, Huifan Shen, Gabriele Loers, Yanqin Shen, Melitta Schachner
Tacrine is a small organic compound that was discovered to mimic the functions of the neural cell adhesion molecule L1 by promoting the cognate functions of L1 in vitro, such as neuronal survival, neuronal migration, neurite outgrowth, and myelination. Based on studies indicating that L1 enhances functional recovery in different central and peripheral nervous system disease paradigms of rodents, it deemed interesting to investigate the beneficial role of tacrine in the attractive zebrafish animal model, by evaluating functional recovery after spinal cord injury...
January 9, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28067629/standardized-echocardiographic-assessment-of-cardiac-function-in-normal-adult-zebrafish-and-heart-disease-models
#5
Louis W Wang, Inken G Huttner, Celine F Santiago, Scott H Kesteven, Ze-Yan Yu, Michael P Feneley, Diane Fatkin
The zebrafish (Danio rerio) is an increasingly popular model organism in cardiovascular research. Major insights into cardiac developmental processes have been gained by studies of embryonic zebrafish. However, the utility of zebrafish for modeling adult-onset heart disease has been limited by a lack of robust methods for in vivo evaluation of cardiac function. We established a physiological protocol for underwater zebrafish echocardiography using high frequency ultrasound, and evaluated its reliability in detecting altered cardiac function in two disease models...
January 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28062374/proteomic-analysis-of-the-rett-syndrome-experimental-model-mecp2-q63x-mutant-zebrafish
#6
Alessio Cortelazzo, Thomas Pietri, Claudio De Felice, Silvia Leoncini, Roberto Guerranti, Cinzia Signorini, Anna Maria Timperio, Lello Zolla, Lucia Ciccoli, Joussef Hayek
: Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Recently, a zebrafish carrying a mecp2-null mutation has been developed with the resulting phenotypes exhibiting defective sensory and thigmotactic responses, and abnormal motor behavior reminiscent of the human disease. Here, we performed a proteomic analysis to examine protein expression changes in mecp2-null vs. wild-type larvae and adult zebrafish...
January 3, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28055019/rep1-inhibits-foxo3-mediated-apoptosis-to-promote-cancer-cell-survival
#7
Kwon-Ho Song, Seon Rang Woo, Joon-Yong Chung, Hyo-Jung Lee, Se Jin Oh, Soon-Oh Hong, Jaegal Shim, Yong Nyun Kim, Seung Bae Rho, Seung-Mo Hong, Hanbyoul Cho, Masahiko Hibi, Dong-Jun Bae, Sang-Yeob Kim, Min Gyu Kim, Tae Woo Kim, Young-Ki Bae
Rab escort protein 1 (REP1) is a component of Rab geranyl-geranyl transferase 2 complex. Mutations in REP1 cause a disease called choroideremia (CHM), which is an X-linked eye disease. Although it is postulated that REP1 has functions in cell survival or death of various tissues in addition to the eye, how REP1 functions in normal and cancer cells remains to be elucidated. Here, we demonstrated that REP1 is required for the survival of intestinal cells in addition to eyes or a variety of cells in zebrafish, and also has important roles in tumorigenesis...
January 5, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28053067/drug-discovery-in-fish-flies-and-worms
#8
Kevin Strange
Nonmammalian model organisms such as the nematode Caenorhabditis elegans, the fruit fly Drosophila melanogaster, and the zebrafish Danio rerio provide numerous experimental advantages for drug discovery including genetic and molecular tractability, amenability to high-throughput screening methods and reduced experimental costs and increased experimental throughput compared to traditional mammalian models. An interdisciplinary approach that strategically combines the study of nonmammalian and mammalian animal models with diverse experimental tools has and will continue to provide deep molecular and genetic understanding of human disease and will significantly enhance the discovery and application of new therapies to treat those diseases...
December 2016: ILAR Journal
https://www.readbyqxmd.com/read/28051361/spectral-domain-optical-coherence-tomography-an-in-vivo-imaging-protocol-for-assessing-retinal-morphology-in-adult-zebrafish
#9
Maria Toms, Dhani Tracey-White, Dhakshi Muhundhakumar, Lina Sprogyte, Adam M Dubis, Mariya Moosajee
The present study outlines a protocol for examining retinal structure in zebrafish, a popular model organism for ocular studies, using spectral domain optical coherence tomography (SD-OCT). We demonstrate how this live imaging modality can be used to obtain high quality images of several retinal features, including the optic nerve, retinal vasculature, and the cone photoreceptor mosaic. Retinal histology sections were obtained from imaged fish for comparison with SD-OCT cross-sectional B-scans. Voronoi domain analysis was used to assess cone photoreceptor packing regularity at 3, 6, and 12 months...
January 4, 2017: Zebrafish
https://www.readbyqxmd.com/read/28045567/disruption-of-the-gaa-gene-in-zebrafish-fails-to-generate-the-phenotype-of-classical-pompe-disease
#10
Jing Wu, Yi Yang, Chengjun Sun, Shaoyang Sun, Qiang Li, Yuxiao Yao, Fei Fei, Lingeng Lu, Zhuo Chang, Wenting Zhang, Xu Wang, Feihong Luo
The underlying pathogenic lesions of glycogen storage disease type II (GSD II) and the diversity of this disease among different species are still under exploration. Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II and examined the sequential pathogenic changes. gaa mRNA and protein expression, enzymatic activity, and lysosomal glycogen accumulation were assessed, and the phenotypic changes were compared between wild-type (WT) and gaa-mutated zebrafish. The presence of a Δ13 frameshift mutation in the gaa gene was confirmed at both the DNA and transcribed mRNA levels by Sanger sequencing...
January 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28036069/ginsenoside-re-promotes-osteoblast-differentiation-in-mouse-osteoblast-precursor-mc3t3-e1-cells-and-a-zebrafish-model
#11
Hye-Min Kim, Dong Hyun Kim, Ho-Jin Han, Chan-Mi Park, Srinivas Rao Ganipisetti, Mariadhas Valan Arasu, Young Ock Kim, Chun Geun Park, Bo-Yeon Kim, Nak-Kyun Soung
Bone homeostasis is tightly regulated to balance bone formation and bone resorption. Many anabolic drugs are used as bone-targeted therapeutic agents for the promotion of osteoblast-mediated bone formation or inhibition of osteoclast-mediated bone resorption. Previous studies showed that ginsenoside Re has the effect of the suppression of osteoclast differentiation in mouse bone-marrow derived macrophages and zebrafish. Herein, we investigated whether ginsenoside Re affects osteoblast differentiation and mineralization in in vitro and in vivo models...
December 29, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28027591/tm6sf2-rs58542926-impacts-lipid-processing-in-liver-and-small-intestine
#12
Elizabeth A O'Hare, Rongze Yang, Laura Yerges-Armstrong, Urmilla Sreenivasan, Rebecca McFarland, Carmen C Leitch, Meredith H Wilson, Shilpa Narina, Alexis Gorden, Kathy Ryan, Alan R Shuldiner, Steve A Farber, G Craig Wood, Christopher D Still, Glenn S Gerhard, Janet D Robishaw, Carole Sztalryd, Norann A Zaghloul
: The transmembrane 6 superfamily member 2 (TM6SF2) loss-of-function variant, rs58542926, is a genetic risk factor for nonalcoholic fatty liver disease and progression to fibrosis, but is paradoxically associated with lower levels of hepatic-derived triglyceride-rich lipoproteins (TRLs). TM6SF2 is expressed predominately in liver and small intestine, sites for triglyceride rich lipoprotein biogenesis and export. In light of this, we hypothesized that TM6SF2 may exhibit analogous effects on both liver and intestine lipid homeostasis...
December 27, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28025085/modelling-viral-infections-using-zebrafish-innate-immune-response-and-antiviral-research
#13
REVIEW
Mónica Varela, Antonio Figueras, Beatriz Novoa
Zebrafish possess a highly developed immune system that is remarkably similar to the human one. Therefore, it is expected that the majority of the signalling pathways and molecules involved in the immune response of mammals exist and behave similarly in fish. The innate antiviral response depends on the recognition of viral components by host cells. Pattern recognition receptors initiate antimicrobial defence mechanisms via several well-conserved signalling pathways. In this paper, we review current knowledge of the antiviral innate immune response in zebrafish by considering the main molecules that have been characterized and the infection models used for the in vivo study of the antiviral innate immune response...
December 23, 2016: Antiviral Research
https://www.readbyqxmd.com/read/28018294/zebrafish-models-for-dyslipidemia-and-atherosclerosis-research
#14
REVIEW
Amnon Schlegel
Atherosclerotic cardiovascular disease is the leading cause of death. Elevated circulating concentrations of lipids are a central pathogenetic driver of atherosclerosis. While numerous effective therapies for this condition have been developed, there is substantial unmet need for this pandemic illness. Here, I will review nutritional, physiological, genetic, and pathological discoveries in the emerging zebrafish model for studying dyslipidemia and atherosclerosis. The technical and physiological advantages and the pharmacological potential of this organism for discovery and validation of dyslipidemia and atherosclerosis targets are stressed through summary of recent findings...
2016: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28008423/flnc-gene-splice-mutations-cause-dilated-cardiomyopathy
#15
Rene L Begay, Charles A Tharp, August Martin, Sharon L Graw, Gianfranco Sinagra, Daniela Miani, Mary E Sweet, Dobromir B Slavov, Neil Stafford, Molly J Zeller, Rasha Alnefaie, Teisha J Rowland, Francesca Brun, Kenneth L Jones, Katherine Gowan, Luisa Mestroni, Deborah M Garrity, Matthew R G Taylor
OBJECTIVE: To identify novel dilated cardiomyopathy (DCM) causing genes, and to elucidate the pathological mechanism leading to DCM by utilizing zebrafish as a model organism. BACKGROUND: DCM, a major cause of heart failure, is frequently familial and caused by a genetic defect. However, only 50% of DCM cases can be attributed to a known DCM gene variant, motivating the ongoing search for novel disease genes. METHODS: We performed whole exome sequencing (WES) in two multigenerational Italian families and one US family with arrhythmogenic DCM without skeletal muscle defects, in whom prior genetic testing had been unrevealing...
August 2016: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/28007903/autophagy-activators-suppress-cystogenesis-in-an-autosomal-dominant-polycystic-kidney-disease-model
#16
Ping Zhu, Cynthia J Sieben, Xiaolei Xu, Peter C Harris, Xueying Lin
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2 It is one of the most common heritable human diseases with eventual development of renal failure; however, effective treatment is lacking. While inhibition of mechanistic target of rapamycin (mTOR) effectively slows cyst expansions in animal models, results from clinical studies are controversial, prompting further mechanistic studies of mTOR-based therapy. Here, we aim to establish autophagy, a downstream pathway of mTOR, as a new therapeutic target for PKD...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28002922/the-adult-zebrafish-as-polyhedric-model-for-skeletal-studies
#17
M Carnovali, M Mariotti, G Banfi
In the last decade, several examples have been produced by scientific literature about zebrafish as a model to study human bone diseases. In fish, bone turnover, reparation and remodeling of the adult bone tissue cannot be studied in embryonic or juvenile stages. In addition, fins and scales represent unique anatomical features useful to study adult bone metabolism and diseases. For these reasons, the adult zebrafish represents an innovative and readily available resource for studying the bone metabolism at cellular and molecular level...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/27989824/rapid-and-cost-effective-xenograft-hepatocellular-carcinoma-model-in-zebrafish-for-drug-testing
#18
Federica Tonon, Cristina Zennaro, Barbara Dapas, Michele Carraro, Massimo Mariotti, Gabriele Grassi
We developed a novel, rapid and cost-effective Zebrafish xenograft model of hepatocellular carcinoma (HCC) for drug screening in the disease. Following injection into the yolk sack of Zebrafish larvae of the human HCC cell line JHH6 stained by a vital dye, tumor mass growth was followed by fluorescence microscopy and by human Ki67 quantification. Tumor induced neo-angiogenesis was evaluated by alkaline phosphatase staining of the vessels, by using the Tg(fli1:EGFP)y(1) strain of Zebrafish and by the quantification of the zebrafish vascular endothelial growth factor and of its receptor...
October 29, 2016: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/27981893/meisoindigo-but-not-its-core-chemical-structure-indirubin-inhibits-zebrafish-interstitial-leukocyte-chemotactic-migration
#19
Baixin Ye, Xiaoxing Xiong, Xu Deng, Lijuan Gu, Qiongyu Wang, Zhi Zeng, Xiang Gao, Qingping Gao, Yueying Wang
CONTEXT: Inflammatory disease is a big threat to human health. Leukocyte chemotactic migration is required for efficient inflammatory response. Inhibition of leukocyte chemotactic migration to the inflammatory site has been shown to provide therapeutic targets for treating inflammatory diseases. OBJECTIVE: Our study was designed to discover effective and safe compounds that can inhibit leukocyte chemotactic migration, thus providing possible novel therapeutic strategy for treating inflammatory diseases...
December 2017: Pharmaceutical Biology
https://www.readbyqxmd.com/read/27978817/evaluation-of-galleria-mellonella-larvae-for-studying-the-virulence-of-streptococcus-suis
#20
Nadya Velikova, Kevin Kavanagh, Jerry M Wells
BACKGROUND: Streptococcus suis is an encapsulated Gram-positive bacterium and the leading cause of sepsis and meningitis in young pigs, resulting in considerable economic losses in the porcine industry. S. suis is considered an emerging zoonotic agent with increasing numbers of human cases over the last years. In the environment, both avirulent and virulent strains occur in pigs, with no evidence for consistent adapatation of virulent strains to the human host. Currently, there is an urgent need for a convenient, reliable and standardised animal model to rapidly assess S...
December 15, 2016: BMC Microbiology
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