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Publications using TSC biosamples

  • Hsieh L, Wen J, Nguyen L, Zhang L, Getz S, Torres-Reveron J, Wang Y, Spencer D, and Bordey A. Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice. Sci Transl Med. 2020 Nov 18;12(570):eabc1492. doi: 10.1126/scitranslmed.abc1492. Read the Article.
    • The authors found a link between the expression of a channel protein called HCN4 (hyperpolarization-activated cyclic-gated potassium channel isoform 4) and seizure activity when present in neurons in mouse brains. They found that elevated mTOR activity led to HCN4 expression in mice and found HCN4 expression in brain tissues resected from patients with TSC.
  • Salles DC, Asrani K, Woo J, Vidotto T, Liu HB, Vidal I, Matoso A, Netto GJ, Argani P, Lotan TL. GPNMB expression identifies TSC1/2/mTOR-associated and MiT family translocation-driven renal neoplasms.J Pathol. 2022 Jun;257(2):158-171. doi: 10.1002/path.5875. Epub 2022 Mar 29. PMID: 35072947; PMCID: PMC9310781. Read the article.
    • The authors found that GPNMB (glycoprotein nonmetastatic B) was upregulated following TSC2loss in a MiT/TFE‐ and mTORC1‐dependent fashion in cell lines. Additionally, renal tumors in Tsc2 +/− A/J mice showed upregulation of GPNMB compared with normal kidney. Mean GPNMB expression was comparable between translocation renal cell carcinomas and other TSC1/2/MTOR alteration‐associated renal tumors (including ESC, LOT, AML, and PEComa).
  • Asrani, K., Woo, J., Mendes, A.A. et al. An mTORC1-mediated negative feedback loop constrains amino acid-induced FLCN-Rag activation in renal cells with TSC2 loss. Nat Commun 13, 6808 (2022). Read the article.
    • The authors utilized the human embryonic kidney HEK293T cells with or without somatic genomic deletion of TSC1, TSC2 or TSC1/2via CRISPR-Cas9 genome editing from the Biosample Repository to show data indicating the existence of a negative feedback loop that constrains amino acid-induced, FLCN:FNIP2-mediated RagC activity in renal cells with constitutive mTORC1 signaling, and the resulting MiT/TFE hyperactivation may drive oncogenesis with loss of the TSC2 tumor suppressor.
  • Rubtsova V, Chun Y, Kim J, Ramirez CB, Jung S, Choi W, Kelly ME, Lopez ML, Cassidy E, Rushing G, Aguiar DJ, Ling Lau W, Ahdoot RS, Smith M, Edinger AL, Lee S, Jang C, and Lee G. Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients. iScience, 2024 Jun. doi: 10.1016/j.isci.2024.110265. Read the article.
    • The study conducted metabolomics and utilized on plasma from kidney angiomyolipoma/cyst-positive or -negative TSC patients to identify potential diagnostic markers of kidney angiomyolipoma’s (AML) in tuberous sclerosis complex. The authors identified seven chemical markers in AML/cyst-positive samples that could point to identifying kidney/metabolic disease in TSC. These seven markers even remained significant when compared to healthy control samples.