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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. Syeda SB, et al. Among authors: gupta sd. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041679 Free PMC article.
The topology of the Lcb1p subunit of yeast serine palmitoyltransferase.
Han G, Gable K, Yan L, Natarajan M, Krishnamurthy J, Gupta SD, Borovitskaya A, Harmon JM, Dunn TM. Han G, et al. Among authors: gupta sd. J Biol Chem. 2004 Dec 17;279(51):53707-16. doi: 10.1074/jbc.M410014200. Epub 2004 Oct 12. J Biol Chem. 2004. PMID: 15485854 Free article.
Autophagy regulates sphingolipid levels in the liver.
Alexaki A, Gupta SD, Majumder S, Kono M, Tuymetova G, Harmon JM, Dunn TM, Proia RL. Alexaki A, et al. Among authors: gupta sd. J Lipid Res. 2014 Dec;55(12):2521-31. doi: 10.1194/jlr.M051862. Epub 2014 Oct 20. J Lipid Res. 2014. PMID: 25332431 Free PMC article.
Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration.
Zhao L, Spassieva S, Gable K, Gupta SD, Shi LY, Wang J, Bielawski J, Hicks WL, Krebs MP, Naggert J, Hannun YA, Dunn TM, Nishina PM. Zhao L, et al. Among authors: gupta sd. Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):12962-7. doi: 10.1073/pnas.1516733112. Epub 2015 Oct 5. Proc Natl Acad Sci U S A. 2015. PMID: 26438849 Free PMC article.
459 results