Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
8.1
4.9
Journals
IJMS
Special Issues
Zebrafish as a Model in Human Disease: 3rd Edition
ijms-logo
Submit to Special Issue Submit Abstract to Special Issue Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Zebrafish as a Model in Human Disease: 3rd Edition

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 December 2024 | Viewed by 3422

Special Issue Editors

Dr. Andrea Vettori

E-Mail Website
Guest Editor
Department of Biotechnology, University of Verona, 37134 Verona, Italy
Interests: molecular genetics; arrhythmogenic cardiomyopathy; hereditary cancers; epilepsy; Hereditary Spastic Paraplegia (HSP); zebrafish mutant models
Special Issues, Collections and Topics in MDPI journals
Dr. Nicola Facchinello

E-Mail Website
Guest Editor
Neuroscience Institute, National Research Council (CNR), 35131 Padua, Italy
Interests: zebrafish; CRISPR/Cas9; transgenic lines; biosensors; endothelial cells; extracellular matrix; genetic mutant for human disease modelling; xenografts
Special Issues, Collections and Topics in MDPI journals
Dr. Marco G. Schiavone

E-Mail Website
Guest Editor
Department of Molecular and Translational Medicine, Zebrafish Facility, University of Brescia, 25123 Brescia, Italy
Interests: zebrafish; Ca2+ signalling; molecular pathways; mitochondria; muscular dystrophy; CRISPR/Cas9; transgenic reporter lines; RNAseq; biosensors; generation of zebrafish models for human disease; drug screening and development; OCR measurement
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is the continuation of our previous Special Issue, “Zebrafish as a Model in Human Disease 2.0”. We welcome original investigations as well as concise review manuscripts focusing on the application of the zebrafish organism to model disease and provide new insight into disease mechanisms and therapy. Understanding and fighting diseases require the right tools. Some aspects of disease biology and treatment, such as tissue homeostasis, interactions between cells and their microenvironment, and response to drugs, cannot be fully captured in vitro. The zebrafish continues to fascinate the research community and represents an ideal model for the in vivo study given its transparency, high manipulability, versatility and availability of a range of genetic tools (mutant, transgenic lines and biosensors), enabling researchers to answer key biological questions at a whole-organism level. In addition to classical approaches, recent technological advances for zebrafish disease modeling have been in precision genome editing. CRISPR-Cas9 has enabled the efficient generation of genetic mutations in zebrafish, and in particular, this can be used to generate site-specific or tissue-specific mutations. The current successes in this area make it even more exciting to look forward to new disease models and tools to investigate them, resulting in more robust, representative and predictive preclinical models.

This Special Issue seeks to attract either basic studies of human genetic diseases in zebrafish, as well as studies describing new methods and tools for genome editing to investigate these models and studies for large-scale drug screening that will guide new avenues for therapeutics development.

Dr. Andrea Vettori
Dr. Nicola Facchinello
Dr. Marco G. Schiavone
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • zebrafish
  • CRISPR/Cas9
  • transgenic lines
  • biosensors
  • endothelial cells
  • extracellular matrix
  • genetic mutant for human disease modeling
  • xenografts

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (4 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

17 pages, 4056 KiB  
Article
The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy
by Eylem Emek Akyürek, Francesca Greco, Chiara Tesoriero, Francesco Dalla Barba, Marcello Carotti, Giulia Gorni, Dorianna Sandonà, Andrea Vettori and Roberta Sacchetto
Int. J. Mol. Sci. 2024, 25(17), 9229; https://doi.org/10.3390/ijms25179229 - 25 Aug 2024
Viewed by 557
Abstract
Brody disease (BD) is an “ultra-rare” human genetic disorder of skeletal muscle function due to defects in the atp2a1 gene causing deficiency of the SERCA protein, isoform1. The main clinical signs are exercise-induced stiffness and delayed muscular relaxation after physical exercises, even mild [...] Read more.
Brody disease (BD) is an “ultra-rare” human genetic disorder of skeletal muscle function due to defects in the atp2a1 gene causing deficiency of the SERCA protein, isoform1. The main clinical signs are exercise-induced stiffness and delayed muscular relaxation after physical exercises, even mild ones. No mouse model nor specific therapies exist for Brody myopathy, which is therefore considered an orphan disease. Bovine congenital pseudomyotonia (PMT) is a muscular disorder characterized by an impairment of muscle relaxation and is the only mammalian model of human BD. The pathogenetic mechanism underlying bovine PMT has been recently clarified. These findings prompted us to purpose a potential pharmacological approach addressing a specific population of BD patients who exhibit reduced expression but still exhibit activity of the SERCA1 pump. Preclinical research involving in vivo studies is essential and necessary before clinical trials can be pursued and SERCA protein shows a high degree of conservation among species. So far, the only animal models available to study BD in vivo are a group of zebrafish mutant lines known as accordion zebrafish (acc). In this paper, we focused on a comprehensive characterization of the “acctq206” zebrafish variant. Our aim was to use this mutant line as an experimental animal model for testing the novel therapeutic approach for BD. Full article
(This article belongs to the Special Issue Zebrafish as a Model in Human Disease: 3rd Edition)
►▼ Show Figures

Figure 1

18 pages, 11032 KiB  
Article
In Vivo Chemical Screening in Zebrafish Embryos Identified FDA-Approved Drugs That Induce Differentiation of Acute Myeloid Leukemia Cells
by Xiaona Wei, Wei Wang, Qianlan Yin, Hongji Li, Abrar Ahmed, Rahat Ullah, Wei Li and Lili Jing
Int. J. Mol. Sci. 2024, 25(14), 7798; https://doi.org/10.3390/ijms25147798 - 16 Jul 2024
Viewed by 709
Abstract
Acute myeloid leukemia (AML) is characterized by the abnormal proliferation and differentiation arrest of myeloid progenitor cells. The clinical treatment of AML remains challenging. Promoting AML cell differentiation is a valid strategy, but effective differentiation drugs are lacking for most types of AML. [...] Read more.
Acute myeloid leukemia (AML) is characterized by the abnormal proliferation and differentiation arrest of myeloid progenitor cells. The clinical treatment of AML remains challenging. Promoting AML cell differentiation is a valid strategy, but effective differentiation drugs are lacking for most types of AML. In this study, we generated Tg(drl:hoxa9) zebrafish, in which hoxa9 overexpression was driven in hematopoietic cells and myeloid differentiation arrest was exhibited. Using Tg(drl:hoxa9) embryos, we performed chemical screening and identified four FDA-approved drugs, ethacrynic acid, khellin, oxcarbazepine, and alendronate, that efficiently restored myeloid differentiation. The four drugs also induced AML cell differentiation, with ethacrynic acid being the most effective. By an RNA-seq analysis, we found that during differentiation, ethacrynic acid activated the IL-17 and MAPK signaling pathways, which are known to promote granulopoiesis. Furthermore, we found that ethacrynic acid enhanced all-trans retinoic acid (ATRA)-induced differentiation, and both types of signaling converged on the IL-17/MAPK pathways. Inhibiting the IL-17/MAPK pathways impaired ethacrynic acid and ATRA-induced differentiation. In addition, we showed that ethacrynic acid is less toxic to embryogenesis and less disruptive to normal hematopoiesis than ATRA. Thus, the combination of ethacrynic acid and ATRA may have broader clinical applications. In conclusion, through zebrafish-aided screening, our study identified four drugs that can be repurposed to induce AML differentiation, thus providing new agents for AML therapy. Full article
(This article belongs to the Special Issue Zebrafish as a Model in Human Disease: 3rd Edition)
►▼ Show Figures

Figure 1

14 pages, 3669 KiB  
Article
Combined Pituitary Hormone Deficiency in lhx4-Knockout Zebrafish
by Nicole Roisman-Geller, Odelia Pisanty, Alon Weinberger, Deodatta S. Gajbhiye, Matan Golan and Yoav Gothilf
Int. J. Mol. Sci. 2024, 25(13), 7332; https://doi.org/10.3390/ijms25137332 - 4 Jul 2024
Viewed by 698
Abstract
LIM homeobox 4 (LHX4) is a transcription factor crucial for anterior pituitary (AP) development. Patients with LHX4 mutation suffer from combined pituitary hormone deficiency (CPHD), short statures, reproductive and metabolic disorders and lethality in some cases. Lhx4-knockout (KO) mice fail to develop [...] Read more.
LIM homeobox 4 (LHX4) is a transcription factor crucial for anterior pituitary (AP) development. Patients with LHX4 mutation suffer from combined pituitary hormone deficiency (CPHD), short statures, reproductive and metabolic disorders and lethality in some cases. Lhx4-knockout (KO) mice fail to develop a normal AP and die shortly after birth. Here, we characterize a zebrafish lhx4-KO model to further investigate the importance of LHX4 in pituitary gland development and regulation. At the embryonic and larval stages, these fish express lower levels of tshb mRNA compared with their wildtype siblings. In adult lhx4-KO fish, the expressions of pituitary hormone-encoding transcripts, including growth hormone (gh), thyroid stimulating hormone (tshb), proopiomelanocortin (pomca) and follicle stimulating hormone (fshb), are reduced, the pomca promoter-driven expression in corticotrophs is dampened and luteinizing hormone (lhb)-producing gonadotrophs are severely depleted. In contrast to Lhx4-KO mice, Lhx4-deficient fish survive to adulthood, but with a reduced body size. Importantly, lhx4-KO males reach sexual maturity and are reproductively competent, whereas the females remain infertile with undeveloped ovaries. These phenotypes, which are reminiscent of those observed in CPHD patients, along with the advantages of the zebrafish for developmental genetics research, make this lhx4-KO fish an ideal vertebrate model to study the outcomes of LHX4 mutation. Full article
(This article belongs to the Special Issue Zebrafish as a Model in Human Disease: 3rd Edition)
►▼ Show Figures

Figure 1

15 pages, 6587 KiB  
Article
Transcriptomic Characterization of Key Factors and Signaling Pathways for the Regeneration of Partially Hepatectomized Liver in Zebrafish
by Guili Song, Guohui Feng, Qing Li, Jinrong Peng, Wei Ge, Yong Long and Zongbin Cui
Int. J. Mol. Sci. 2024, 25(13), 7212; https://doi.org/10.3390/ijms25137212 - 29 Jun 2024
Viewed by 985
Abstract
Liver regeneration induced by partial hepatectomy (PHx) has attracted intensive research interests due to the great significance for liver resection and transplantation. The zebrafish (Danio rerio) is an excellent model to study liver regeneration. In the fish subjected to PHx (the [...] Read more.
Liver regeneration induced by partial hepatectomy (PHx) has attracted intensive research interests due to the great significance for liver resection and transplantation. The zebrafish (Danio rerio) is an excellent model to study liver regeneration. In the fish subjected to PHx (the tip of the ventral lobe was resected), the lost liver mass could be fully regenerated in seven days. However, the regulatory mechanisms underlying the liver regeneration remain largely unknown. In this study, gene expression profiles during the regeneration of PHx-treated liver were explored by RNA sequencing (RNA-seq). The genes responsive to the injury of PHx treatment were identified and classified into different clusters based on the expression profiles. Representative gene ontology (GO) enrichments for the early responsive genes included hormone activity, ribosome biogenesis and rRNA processing, etc., while the late responsive genes were enriched in biological processes such as glutathione metabolic process, antioxidant activity and cellular detoxification. The Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichments were also identified for the differentially expressed genes (DEGs) between the time-series samples and the sham controls. The proteasome was overrepresented by the up-regulated genes at all of the sampling time points. Inhibiting proteasome activity by the application of MG132 to the fish enhanced the expression of Pcna (proliferating cell nuclear antigen), an indicator of hepatocyte proliferation after PHx. Our data provide novel insights into the molecular mechanisms underlying the regeneration of PHx-treated liver. Full article
(This article belongs to the Special Issue Zebrafish as a Model in Human Disease: 3rd Edition)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-4
Back to TopTop