1. Alotaibi, Maha, Aldossari, Ali, Khan, Imran, Alotaibi, Leena. 2022. Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient. In Case reports in pediatrics, 2022, 5498109. doi:10.1155/2022/5498109. https://pubmed.ncbi.nlm.nih.gov/36330313/
2. Liaqat, Khurram, Treat, Kayla, Mantcheva, Lili, Conboy, Erin, Vetrini, Francesco. 2023. A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. In American journal of medical genetics. Part A, 194, e63499. doi:10.1002/ajmg.a.63499. https://pubmed.ncbi.nlm.nih.gov/38135440/
3. Zheng, Zu-Guo, Zhu, Si-Tong, Cheng, Hui-Min, Li, Ping, Xu, Xiaojun. 2020. Discovery of a potent SCAP degrader that ameliorates HFD-induced obesity, hyperlipidemia and insulin resistance via an autophagy-independent lysosomal pathway. In Autophagy, 17, 1592-1613. doi:10.1080/15548627.2020.1757955. https://pubmed.ncbi.nlm.nih.gov/32432943/
4. Hartal-Benishay, Liat H, Saadi, Esraa, Toubiana, Shir, Selig, Sara, Barki-Harrington, Liza. 2022. MBTPS1 regulates proliferation of colorectal cancer primarily through its action on sterol regulatory element-binding proteins. In Frontiers in oncology, 12, 1004014. doi:10.3389/fonc.2022.1004014. https://pubmed.ncbi.nlm.nih.gov/36300096/
5. Gorski, Jeff P, Huffman, Nichole T, Vallejo, Julian, Bonewald, Lynda, Brotto, Marco. 2015. Deletion of Mbtps1 (Pcsk8, S1p, Ski-1) Gene in Osteocytes Stimulates Soleus Muscle Regeneration and Increased Size and Contractile Force with Age. In The Journal of biological chemistry, 291, 4308-22. doi:10.1074/jbc.M115.686626. https://pubmed.ncbi.nlm.nih.gov/26719336/
6. Tadros, Haidy, Seidah, Nabil G, Chrétien, Michel, Mbikay, Majambu. . Genetic mapping of the gene for SKI-1/S1P protease (locus symbol Mbtps1) to mouse chromosome 8. In DNA sequence : the journal of DNA sequencing and mapping, 13, 109-11. doi:. https://pubmed.ncbi.nlm.nih.gov/12180344/
7. Raggio, Víctor, Rodríguez, Soledad, Feder, Sandra, Gueçaimburú, Rosario, Spangenberg, Lucía. 2024. Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia. In Diagnostics (Basel, Switzerland), 14, . doi:10.3390/diagnostics14030313. https://pubmed.ncbi.nlm.nih.gov/38337829/
8. Meyer, Robert, Elbracht, Miriam, Opladen, Thomas, Eggermann, Thomas. 2020. Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome. In American journal of medical genetics. Part A, 182, 2727-2730. doi:10.1002/ajmg.a.61833. https://pubmed.ncbi.nlm.nih.gov/32857899/
9. Yuan, Yeqing, Zhou, Qiaoli, Wang, Chunli, Gu, Wei, Zheng, Bixia. 2023. Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant. In Frontiers in pediatrics, 10, 1056141. doi:10.3389/fped.2022.1056141. https://pubmed.ncbi.nlm.nih.gov/36714646/
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