1. Bhattacharyya, Aritra, Khan, Ranjha, Lee, Joanna Y, Bhattacharya, Mallar, Saba, Julie D. 2024. Gene therapy with AAV9-SGPL1 in an animal model of lung fibrosis. In The Journal of pathology, 263, 22-31. doi:10.1002/path.6256. https://pubmed.ncbi.nlm.nih.gov/38332723/
2. Zhao, Piming, Tassew, Gizachew B, Lee, Joanna Y, Keller, Nancy, Saba, Julie D. 2021. Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome. In JCI insight, 6, . doi:10.1172/jci.insight.145936. https://pubmed.ncbi.nlm.nih.gov/33755599/
3. Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Delague, Valérie, Urtizberea, J Andoni. . A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. In Journal of neuromuscular diseases, 9, 193-210. doi:10.3233/JND-210652. https://pubmed.ncbi.nlm.nih.gov/34602496/
4. Settas, Nikolaos, Persky, Rebecca, Faucz, Fabio R, Metherell, Louise A, Stratakis, Constantine A. . SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. In The Journal of clinical endocrinology and metabolism, 104, 1484-1490. doi:10.1210/jc.2018-02238. https://pubmed.ncbi.nlm.nih.gov/30517686/
5. Adamus, Anna, Engel, Nadja, Seitz, Guido. 2019. SGPL1321 mutation: one main trigger for invasiveness of pediatric alveolar rhabdomyosarcoma. In Cancer gene therapy, 27, 571-584. doi:10.1038/s41417-019-0132-8. https://pubmed.ncbi.nlm.nih.gov/31455837/
6. Smith, Christopher J, Williams, Jack L, Hall, Charlotte, Prasad, Rathi, Metherell, Louise A. 2023. Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation. In Journal of lipid research, 64, 100351. doi:10.1016/j.jlr.2023.100351. https://pubmed.ncbi.nlm.nih.gov/36868360/
7. Yang, Wenyi, Zhou, Binhui, Liu, Qi, Liang, Yinming, He, Le. 2022. A Murine Point Mutation of Sgpl1 Skin Is Enriched With Vγ6 IL17-Producing Cell and Revealed With Hyperpigmentation After Imiquimod Treatment. In Frontiers in immunology, 13, 728455. doi:10.3389/fimmu.2022.728455. https://pubmed.ncbi.nlm.nih.gov/35769463/