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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Among authors: somashekarappa n. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Structural insights into the regulation of human serine palmitoyltransferase complexes.
Wang Y, Niu Y, Zhang Z, Gable K, Gupta SD, Somashekarappa N, Han G, Zhao H, Myasnikov AG, Kalathur RC, Dunn TM, Lee CH. Wang Y, et al. Among authors: somashekarappa n. Nat Struct Mol Biol. 2021 Mar;28(3):240-248. doi: 10.1038/s41594-020-00551-9. Epub 2021 Feb 8. Nat Struct Mol Biol. 2021. PMID: 33558761 Free PMC article.
The ORMs interact with transmembrane domain 1 of Lcb1 and regulate serine palmitoyltransferase oligomerization, activity and localization.
Han G, Gupta SD, Gable K, Bacikova D, Sengupta N, Somashekarappa N, Proia RL, Harmon JM, Dunn TM. Han G, et al. Among authors: somashekarappa n. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Mar;1864(3):245-259. doi: 10.1016/j.bbalip.2018.11.007. Epub 2018 Dec 6. Biochim Biophys Acta Mol Cell Biol Lipids. 2019. PMID: 30529276 Free PMC article.