Deep characterization of a zebrafish model for dominant osteogenesis imperfecta

2016 ◽  
Author(s):  
Francesca Tonelli ◽  
Roberta Gioia ◽  
Marco Biggiogera ◽  
Shannon Fisher ◽  
Sergey Leikin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Zebrafish Model

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

2021 ◽  
Author(s):  
Francisco Javier Cotrina-Vinagre ◽  
María Elena Rodríguez-García ◽  
Elena Martín-Hernández ◽  
Cristina Durán-Aparicio ◽  
Abraham Merino-López ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Complex Phenotype

scholarly journals Further characterization of the zebrafish model of acrylamide acute neurotoxicity: gait abnormalities and oxidative stress

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Melissa Faria ◽  
Arnau Valls ◽  
Eva Prats ◽  
Juliette Bedrossiantz ◽  
Manuel Orozco ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Zebrafish Model ◽  
Acute Neurotoxicity ◽  
Gait Abnormalities ◽  
And Oxidative Stress

Identification andIn VivoFunctional Characterization of Novel Compound HeterozygousBMP1Variants in Osteogenesis Imperfecta

2015 ◽  
Vol 36 (2) ◽  
pp. 191-195 ◽  
Author(s):  
Sung Yoon Cho ◽  
P.V. Asharani ◽  
Ok-Hwa Kim ◽  
Aritoshi Iida ◽  
Noriko Miyake ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta

scholarly journals Zebrafish: A Suitable Tool for the Study of Cell Signaling in Bone

Cells ◽  
2020 ◽  
Vol 9 (8) ◽  
pp. 1911
Author(s):  
Maria Teresa Valenti ◽  
Giulia Marchetto ◽  
Monica Mottes ◽  
Luca Dalle Carbonare
Keyword(s):  
Osteogenesis Imperfecta ◽  
Signaling Pathways ◽  
Gaucher Disease ◽  
Model Organism ◽  
Bone Diseases ◽  
Zebrafish Model ◽  
Bone Differentiation ◽  
Transgenic Lines ◽  
Therapeutic Tools ◽  
Genetic Mutants

In recent decades, many studies using the zebrafish model organism have been performed. Zebrafish, providing genetic mutants and reporter transgenic lines, enable a great number of studies aiming at the investigation of signaling pathways involved in the osteoarticular system and at the identification of therapeutic tools for bone diseases. In this review, we will discuss studies which demonstrate that many signaling pathways are highly conserved between mammals and teleost and that genes involved in mammalian bone differentiation have orthologs in zebrafish. We will also discuss as human diseases, such as osteogenesis imperfecta, osteoarthritis, osteoporosis and Gaucher disease can be investigated in the zebrafish model.

scholarly journals Zebrafish larvae as a model system for systematic characterization of drugs and genes in dyslipidemia and atherosclerosis

2018 ◽  
Author(s):  
Manoj K Bandaru ◽  
Anastasia Emmanouilidou ◽  
Petter Ranefall ◽  
Benedikt von der Heyde ◽  
Eugenia Mazzaferro ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Large Scale ◽  
Early Stage ◽  
Model System ◽  
Concomitant Treatment ◽  
Induced Mutations ◽  
Zebrafish Model ◽  
Disease Etiology ◽  
Causal Genes

AbstractBackgroundHundreds of loci have been robustly associated with circulating lipids, atherosclerosis and coronary artery disease; but for most loci the causal genes and mechanisms remain uncharacterized.MethodsWe developed a semi-automated experimental pipeline for systematic, quantitative, large-scale characterization of mechanisms, drugs and genes associated with dyslipidemia and atherosclerosis in a zebrafish model system. We validated our pipeline using a dietary (n>2000), drug treatment (n>1000), and genetic intervention (n=384), and used it to characterize three candidate genes in a GWAS-identified pleiotropic locus on chr 19p13.11 (n>500).ResultsOur results show that five days of overfeeding and cholesterol supplementation had independent pro-atherogenic effects, which could be diminished by concomitant treatment with atorvastatin and ezetimibe. CRISPR-Cas9-induced mutations in orthologues of proof-of-concept genes resulted in higher LDL cholesterol levels (apoea), and more early stage atherosclerosis (apobb.1). Finally, our pipeline helped identify putative causal genes for circulating lipids and early-stage atherosclerosis (LPAR2andGATAD2A).ConclusionsIn summary, our pipeline facilitates systematic,in vivocharacterization of drugs and candidate genes to increase our understanding of disease etiology, and can likely help identify novel targets for therapeutic intervention.

scholarly journals Loss-of-function of the NOMO1 Gene Causes Neuropsychiatric Disorder-related Phenotypes

2020 ◽  
Author(s):  
Fei Li ◽  
Tingting Li ◽  
Jia Lin ◽  
Jing Jian ◽  
Qi Zhang ◽  
...  
Keyword(s):  
Neuropsychiatric Disorders ◽  
Repetitive Behaviors ◽  
Loss Of Function ◽  
Spontaneous Movement ◽  
Zebrafish Model ◽  
Behavioral Phenotypes ◽  
Functional Mechanism ◽  
Genome Wide ◽  
Vertebrate Model

Abstract Background: Clinical genome-wide analysis identified NOMO1 in human chromosome 16p13.11 as a candidate gene associated with neuropsychiatric disorders such as autism, schizophrenia and epilepsy. However, the important contributions underlying NOMO1 deficiency resulting in neuropsychiatric disorders is not understand, and the molecular and pathogenesis mechanisms of nomo1 gene are unclear. Therefore, it is necessary to construct animal models to systematically study the effects of nomo1 deficiency on neuropsychiatric system and explore pathogenic molecular mechanism of diseases.Methods: We developed a viable vertebrate model of loss-of-function of nomo1 using CRISPR/Cas9 and studied the characterization of nomo1 mutant zebrafish. Phenotypic research was performed in developing nomo1 mutant zebrafish, including morphological measurements, behavioral tests, and functional mechanism analyses.Results: The nomo1 loss-of-function zebrafish model accurately recapitulated key neuropsychiatric disorders traits. The mutant zebrafish showed decreased locomotion in the larval stage (7 dpf), increased spontaneous movement in infancy (15 dpf and 30 dpf), and social defects and repetitive behaviors in adolescence (2 mpf). More importantly, we demonstrated that these behavioral phenotypes stem from abnormal brain structure and neurotransmitter metabolism. Transcriptome analysis provided insights for studying the functional mechanism of nomo1 pathogenesis. Further results revealed that the neuroactive drug PTZ recovered the decreased locomotion phenotype in larval zebrafish, which provides functional basis for the exploration of drug sensitivity and intervention in behavioral phenotypes of nomo1 mutant zebrafish.Conclusion: This study firstly reveal the functional evidence that loss-of-function of nomo1 elicits neuropsychiatric disorders, and emphasize the relationship between nomo1 deficiency and neuropsychiatric disorders from the perspectives of behavioral phenotypes, brain development, and neurotransmitter metabolism.Limitation: The behavioral phenotype intervention of neuroactive drug in nomo1-/-zebrafish can be directly translated to the behavior of human associated diseases need further study.

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