Annotated Bibliography

Batshaw, Mark L., Mendel Tuchman, Marshall Summar, Jennifer Seminara, and Members of the Urea Cycle Disorders Consortium. 2014. “A Longitudinal Study of Urea Cycle Disorders.Molecular Genetics and Metabolism 113 (1-2): 127–30. doi:10.1016/j.ymgme.2014.08.001.

  • This paper describes a study of eight different urea cycle disorders, one of which is the disease of interest: type I citrullinemia. This paper offers a broad sense of disorders that are linked to the same cycle as citrullinemia.

“Citrullinemia Type 1 – NORD (National Organization for Rare Disorders).” 2016. NORD (National Organization for Rare Disorders). Accessed May 3.

  • This source explains some of the general clinical information surrounding Type 1 Citrullinemia. It can be used to explain how the disease is treated and why the treatments work in accordance with the disease state.

Engel, Katharina, Wolfgang Höhne, and Johannes Häberle. 2009. “Mutations and Polymorphisms in the Human Argininosuccinate Synthetase (ASS1) Gene.Human Mutation 30 (3): 300–307. doi:10.1002/humu.20847.

  • This article describes 87 mutations of the ASS1 gene, some of which are reported for the first time here. The paper also links these mutations to their clinical effects. Citrullinemia is a result of an ASS1 mutation and this information is found here.

Faghfoury, Hannaneh, Julian Baruteau, Helene Ogier de Baulny, Johannes Häberle, and Andreas Schulze. 2011. “Transient Fulminant Liver Failure as an Initial Presentation in Citrullinemia Type I.Molecular Genetics and Metabolism 102 (4): 413–17. doi:10.1016/j.ymgme.2010.12.007.

  • This paper provides a speculative correlation between liver failure and type I citrullinemia. This provides the opportunity to further emphasize the negative impact citrullinemia has on one’s health.

Gao, Hong-Zhi, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoglu, et al. 2003. “Identification of 16 Novel Mutations in the Argininosuccinate Synthetase Gene and Genotype–phenotype Correlation in 38 Classical Citrullinemia Patients.Human Mutation 22 (1): 24–34. doi:10.1002/humu.10230.

  • Here 16 new mutations of ASS1 are reported as well as their correlations with type 1 citrullinemia.

Goto, Masaru, Yoshitaka Nakajima, and Ken Hirotsu. 2002. “Crystal Structure of Argininosuccinate Synthetase from Thermus Thermophilus HB8 STRUCTURAL BASIS FOR THE CATALYTIC ACTION.Journal of Biological Chemistry 277 (18): 15890–96. doi:10.1074/jbc.M112430200.

  • This paper provides the crystal structure of the enzyme of interest whose mutation is responsible for citrullinemia. A structural understanding can lead to mechanistic findings, which can allow for further investigation of mutations and their negative effects. This structure is specifically a bacterial homolog which is not the exact enzyme that must be studied, but bacterial proteins are easier to isolate than human proteins. This is just one step in understanding the enzyme structure and mechanism.

Guei, Tai-Ru, Mei-Chun Liu, Chun-Ping Yang, and Tsung-Sheng Su. 2008. “Identification of a Liver-Specific cAMP Response Element in the Human Argininosuccinate Synthetase Gene.Biochemical and Biophysical Research Communications 377 (1): 257–61. doi:10.1016/j.bbrc.2008.09.118.

  • A signaling pathway is speculated to be involved in the ASS1 gene. Further insight in to this pathway may yield an understanding of mutations’ effects.

Häberle, J., S. Pauli, M. Linnebank, W. J. Kleijer, H. D. Bakker, R. J. A. Wanders, E. Harms, and H. G. Koch. 2002. “Structure of the Human Argininosuccinate Synthetase Gene and an Improved System for Molecular Diagnostics in Patients with Classical and Mild Citrullinemia.Human Genetics 110 (4): 327–33. doi:10.1007/s00439-002-0686-6.

  • The structure of the ASS1 gene is described. The paper claims that structural knowledge of this gene has allowed for improved prenatal diagnostics.

Ibarra-González, Isabel, Cynthia Fernández-Lainez, and Marcela Vela-Amieva. 2010. “Clinical and Biochemical Characteristics of Patients with Urea Cycle Disorders in a Developing Country.Clinical Biochemistry 43 (4-5): 461–66. doi:10.1016/j.clinbiochem.2009.12.004.

  • This article reports on characteristics of patients with urea cycle disorders in developing countires. This allows for a more broad understanding of signs and symptoms of the disease as well as what occurs when it goes untreated. The paper also provides a geographical focus.

Karlberg, Tobias, Ruairi Collins, Susanne van den Berg, Alex Flores, Martin Hammarström, Martin Högbom, Lovisa Holmberg Schiavone, and Jonas Uppenberg. 2008. “Structure of Human Argininosuccinate Synthetase.Acta Crystallographica. Section D, Biological Crystallography 64 (Pt 3): 279–86. doi:10.1107/S0907444907067455.

  • This is another paper that describes the structure of the enzyme of interest: argininosuccinate synthetase. However, the journal in which it is published is not exactly the most reliable. Intricacies of the paper will explain why that is and will therefore help explain why there is still so much we do not know about this enzyme and its contribution to the disease.

Kimani, Joseph Kagunda, Tianying Wei, Kim Chol, Ying Li, Ping Yu, Sheng Ye, Xinwen Huang, and Ming Qi. 2015. “Functional Analysis of Novel Splicing and Missense Mutations Identified in the ASS1 Gene in Classical Citrullinemia Patients.Clinica Chimica Acta 438 (January): 323–29. doi:10.1016/j.cca.2014.08.028.

  • Here we see how post-transcriptional modifications are involved in the production of argininosuccinate synthetase. This offers an alternative pathway to be investigated for the purposes of citrullinemia.

Kim, In-Suk, Chang-Seok Ki, Jong-Won Kim, Munhyang Lee, Dong-Kyu Jin, and Soo-Youn Lee. 2006. “Characterization of Late-Onset Citrullinemia 1 in a Korean Patient: Confirmation by Argininosuccinate Synthetase Gene Mutation Analysis.Journal of Biochemistry and Molecular Biology 39 (4): 400–405.

  • This is a more clinically focused paper that discusses a single patient with late-onset citrullinemia. Description of clinical methods in the paper exhibits a more applied way to combat the disease.

Lee, Beom Hee, Yoo-Mi Kim, Sun Hee Heo, Gu-Hwan Kim, In-Hee Choi, Byong Sop Lee, Ellen Ai-Rhan Kim, et al. 2013. “High Prevalence of Neonatal Presentation in Korean Patients with Citrullinemia Type 1, and Their Shared Mutations.Molecular Genetics and Metabolism 108 (1): 18–24. doi:10.1016/j.ymgme.2012.11.011.

  • This paper is describing neonatal Korean patients with citrullinemia and what mutations these patients share. This is a more focused example of the disease’s correlation with mutations.

Li, C. M., H. K. Chao, Y. F. Liu, and T. S. Su. 2001. “A Nonsense Mutation Is Responsible for the RNA-Negative Phenotype in Human Citrullinaemia.European Journal of Human Genetics: EJHG 9 (9): 685–89. doi:10.1038/sj.ejhg.5200695.

  • This article describes a specific nonsense mutation that is responsible for citrullinemia.

McMurray, W. C., Mohyuddin, F., Rossiter, R. J., Rathbun, J. C., Valentine, G. H., Koegler, S. J., Zarfas, D. E. Citrullinuria: a new aminoaciduria associated with mental retardation. Lancet 279: 138 only, 1962. Note: Originally Volume I.

  • This describes the first reported case of Type 1 Citrullinemia. This is helpful for historical background on the disease.

Miller, Marcus J., Claudia R. Soler-Alfonso, Jaime E. Grund, Ping Fang, Qin Sun, Sarah H. Elsea, and V. Reid Sutton. 2014. “Improved Standards for Prenatal Diagnosis of Citrullinemia.Molecular Genetics and Metabolism 112 (3): 205–9. doi:10.1016/j.ymgme.2014.05.004.

  • The authors propose a new sequencing method for a more precise prenatal diagnosis of citrullinemia.

Mun, Gyeong In, In-San Kim, Byung-Heon Lee, and Yong Chool Boo. 2011. “Endothelial Argininosuccinate Synthetase 1 Regulates Nitric Oxide Production and Monocyte Adhesion under Static and Laminar Shear Stress Conditions.The Journal of Biological Chemistry 286 (4): 2536–42. doi:10.1074/jbc.M110.180489.

  • Here the proper functionality of ASS1 is proposed to be essential for successful endothelial nitric oxide production and endothelial adhesion prevention. This offers another reason for investigating the gene of interest.

Nagasaka, Hironori, Hirokazu Tsukahara, Tohru Yorifuji, Takashi Miida, Kei Murayama, Tomoko Tsuruoka, Tomozumi Takatani, et al. 2009. “Evaluation of Endogenous Nitric Oxide Synthesis in Congenital Urea Cycle Enzyme Defects.Metabolism: Clinical and Experimental 58 (3): 278–82. doi:10.1016/j.metabol.2008.09.025.

  • This paper explores the nitric oxide pathway and suggests its role in the pathophysiology of urea cycle disorders, thus proposing another mechanism for citrullinemia.

Quinonez, Shane C., and Jess G. Thoene. 1993. “Citrullinemia Type I.” In GeneReviews(®), edited by Roberta A. Pagon, Margaret P. Adam, Holly H. Ardinger, Stephanie E. Wallace, Anne Amemiya, Lora JH Bean, Thomas D. Bird, et al. Seattle (WA): University of Washington, Seattle.

  • This was a gene review found through OMIM in NCBI. It is extremely helpful in its layout of different aspects of the disease. It can be used for its information on treatment as well as testing for the disease.

Shaheen, N., K. Kobayashi, H. Terazono, T. Fukushige, M. Horiuchi, and T. Saheki. 1994. “Characterization of Human Wild-Type and Mutant Argininosuccinate Synthetase Proteins Expressed in Bacterial Cells.Enzyme & Protein 48 (5-6): 251–64.

  • This study explores the human ASS1 gene through its transformation into bacterial cells. Specific amino acid residues are identified as essential for proper function in the enzyme of interest.

Tedesco, T. A., Mellman, W. J. Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject. Proc. Nat. Acad. Sci. 57: 829-834, 1967.

  • This was one of the first papers to recognize that argininosuccinate synthetase deficiency is responsible for Type 1 Citrullinemia. This is helpful for historical purposes and understanding of the disease.

Testai, Fernando D., and Philip B. Gorelick. 2010. “Inherited Metabolic Disorders and Stroke Part 2: Homocystinuria, Organic Acidurias, and Urea Cycle Disorders.Archives of Neurology 67 (2): 148–53. doi:10.1001/archneurol.2009.333.

  • This paper ties urea cycle disorders to the occurrence of strokes, providing another reason for investigaiton. It also explains certain treatment options for patients with the disease.

The Organic Chemistry of Biological Pathways. John McMurry and Tadhg Begley, Roberts&Co. Publishers, ISBN 0-9747077-1-6 (2005)

  • This textbook provides mechanistic detail on all primary metabolic pathways, including the urea cycle which is highly involved in this disease. The explanation of the mechanism for ASS1 can be used to explain the metabolic and molecular aspects of the disease.

Woo, Hye In, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Dong-Kyu Jin, Won Soon Park, Dong Hwan Lee, Yong-Wha Lee, and Hyung-Doo Park. 2013. “Mutation Spectrum of the ASS1 Gene in Korean Patients with Citrullinemia Type I.Clinical Biochemistry 46 (3): 209–13. doi:10.1016/j.clinbiochem.2012.10.008.

  • Different mutations of ASS1 were explored in an ethnic and geographic context. This offers a social outlook on the disease.

Woo, Hye In, Hyung-Doo Park, and Yong-Wha Lee. 2014. “Molecular Genetics of Citrullinemia Types I and II.Clinica Chimica Acta 431 (April): 1–8. doi:10.1016/j.cca.2014.01.032.

  • This paper summarizes the molecular genetic background of type 1 citrullinemia and its corresponding mutation in the ASS1 gene.

Wu, Tong-Fei, Yu-Peng Liu, Xi-Yuan Li, Qiao Wang, Jin-Qing Song, and Yan-Ling Yang. 2014. “Prenatal Diagnosis of Citrullinemia Type 1: A Chinese Family with a Novel Mutation of the ASS1 Gene.Brain and Development 36 (3): 264–67. doi:10.1016/j.braindev.2013.03.005.

  • A new mutation in the ASS1 gene is identified through the gene analysis of a prenatal diagnosis of citrullinemia.


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