Annotated Bibliography

Bokhari, M. R., Samanta, D., & Bokhari, S. R. A. (2022, September). Canavan disease. National Center for Biotechnology Information. https://pubmed.ncbi.nlm.nih.gov/28613566/

Cerda, G. A., Thomas, J. E., Allende, M. L., Karlstrom, R. O., & Palma, V. (2006). Electroporation of DNA, RNA, and morpholinos into zebrafish embryos. Methods, 39(3), 207–211. https://doi.org/10.1016/j.ymeth.2005.12.009

Dooley, C. M., Schwarz, H., Mueller, K. P., Mongera, A., Konantz, M., Neuhauss, S. C., Nüsslein-Volhard, C., & Geisler, R. (2012). SLC45A2 and V-atpase are regulators of melanosomal ph homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease. Pigment Cell & Melanoma Research, 26(2), 205–217. https://doi.org/10.1111/pcmr.12053

Irion, U., Krauss, J., & Nüsslein-Volhard, C. (2014). Precise and efficient genome editing in zebrafish using the CRISPR/cas9 system. Development, 141(24), 4827–4830. https://doi.org/10.1242/dev.115584

Jolly S, Fudge A, Pringle N, Richardson WD, Li H. Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections. J Vis Exp. 2016 Mar 26;(109):e53976. doi: 10.3791/53976. PMID: 27077668; PMCID: PMC4841319.

Kalueff AV, Stewart AM, Gerlai R. Zebrafish as an emerging model for studying complex brain disorders. Trends Pharmacol Sci. 2014 Feb;35(2):63-75. doi: 10.1016/j.tips.2013.12.002. Epub 2014 Jan 9. PMID: 24412421; PMCID: PMC3913794.

Kimmel, C. B., Ballard, W. W., Kimmel, S. R., Ullmann, B., & Schilling, T. F. (1995). Stages of embryonic development of the zebrafish. Developmental Dynamics, 203(3), 253–310. https://doi.org/10.1002/aja.1002030302

Mattan, N. S., Ghiani, C. A., Lloyd, M., Matalon, R., Bok, D., Casaccia, P., & de Vellis, J. (2010). Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination. Neurobiology of disease, 40(2), 432–443. https://doi.org/10.1016/j.nbd.2010.07.003

Redman, M., King, A., Watson, C., & King, D. (2016). What is CRISPR/Cas9? Archives of Disease in Childhood, 213–215. https://doi.org/10.1136/archdischild

Rutherford HA, Hamilton N. Animal models of leukodystrophy: a new perspective for the development of therapies. FEBS J. 2019 Nov;286(21):4176-4191. doi: 10.1111/febs.15060. Epub 2019 Oct 9. PMID: 31520449.

U.S. Department of Health and Human Services. (2022, July). Canavan disease. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/canavan-disease#:~:text=Symptoms%20of%20Canavan%20disease%20usually,hearing%20loss%20may%20also%20occur.

U.S. National Library of Medicine. (2015, April 1). Canavan Disease. MedlinePlus. Retrieved February 26, 2023, from https://medlineplus.gov/genetics/condition/canavan-disease/

Veldman, M. B., & Lin, S. (2008, November). Zebrafish as a developmental model organism for pediatric research. Nature News. https://www.nature.com/articles/pr2008227

Zhang, C., Ren, Z., & Gong, Z. (2020). Transgenic expression and genome editing by electroporation of zebrafish embryos. Marine Biotechnology, 22(5), 644–650. https://doi.org/10.1007/s10126-020-09985-0

This article provides a good baseline for beginning research into Canavan Disease. The authors cover most of the basic information including the symptoms and complications, diagnosis, treatments, and some brief information on the mechanisms underlying the disease.

This is a primary article that is very heavy on the methods for electroporation. The authors provide valuable information on electroporation in zebrafish embryos including the survival rate of electroporating at different developmental timepoints, preparation of embryos, and optimization of electroporation parameters. This paper is slightly outdated and utilized microinjection rather than CRISPR Cas9, so we will need to find a more relevant, up-to-date paper.

The authors of this paper discuss their methods and results for knocking out the slc45a2 gene in order to yield albino zebrafish. This paper is beneficial because if we plan to use CRISPR Cas9 and electroporation to knock out a gene of interest in zebrafish embryos, we would like to begin with the slc45a2 gene first as the success of genetic manipulation can be easily confirmed visually.

This article is similar to the previous paper as it discusses the knockout of the slc45a2 gene in zebrafish embryos, but this paper provides more structured methods that we can easily adapt for our purposes and utilizes the CRISPR Cas9 system rather than microinjection. The authors of this paper discuss the preparation of the Cas9 RNA and sgRNAs used, which is important to note.

This primary article discusses the in situ hybridization process used to determine the expression patterns of the ASPA gene in the brains of mice. This paper will be especially useful when we conduct in situ in zebrafish embryos for the ASPA gene as this has not previously been done before, so we may expect to see some similarities between our results and the results outlined in this paper.

In this article, the benefits of using a zebrafish model system for studying brain disorders are discussed. Zebrafish develop rapidly and ex utero, are very similar genetically to humans, and reproduce in mass numbers. This paper provides a lot of valuable information that I plan to use in my grant proposal(s) for PAS and other conferences to support my choice in using zebrafish as a model system.

This article discusses the full development process of zebrafish from embryos to adults. I was primarily interested in the discussion on the early development stages, such as the cleavage period, as this is when we will need to dechorionate embryos and conduct electroporation.

Need to look into this paper further.

This article focuses on CRISPR Cas9 and provides a lot of simplified background information. The potential clinical uses and benefits as well as the possible limitations are discussed here, but I will need to look into other papers to gain a better understanding of the specific mechanisms by which this system works.

In this paper, two major animal models, the zebrafish and the mouse, are compared in the context of leukodystrophies. There is some nice background information on leukodystrophy pathology, but I was primarily interested in this paper for the different types of therapies for leukodsystrophies that are being developed using these different model systems.

This is a webpage rather than a research article, but it provides some important information on what Canavan Disease is and how it develops as well as provides links to some other sources for further information.

This is another webpage, but it includes more in-depth information on Canavan Disease as well as the ASPA gene itself which is crucial for my research. This source focuses more on the molecular side of things by discussing some of the mechanisms of the disease rather than just the symptoms, treatments, and outcomes.

Similar to previous articles, this article discusses the benefits and limitations of using zebrafish as a model system for research, but does so in the context of pediatric research. Since zebrafish develop rapidly and ex utero, they are an excellent system for studying developmental disorders and diseases, such as Canavan Disease.

This source is another primary article on electroporation of zebrafish embryos, but it is useful as it is more up-to-date than the other electroporation papers and outlines the specific methods used so we could easily adapt it to knockout the slc45a2 gene or ASPA gene.