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In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.
Sprecher U, Dsouza J, Marisat M, Barasch D, Mishra K, Kakhlon O, Manor J, Anikster Y, Weil M. Sprecher U, et al. Among authors: marisat m. Mol Genet Metab Rep. 2024 Dec 16;42:101172. doi: 10.1016/j.ymgmr.2024.101172. eCollection 2025 Mar. Mol Genet Metab Rep. 2024. PMID: 39802097 Free PMC article.
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.
Kakhlon O, Vaknin H, Mishra K, D'Souza J, Marisat M, Sprecher U, Wald-Altman S, Dukhovny A, Raviv Y, Da'adoosh B, Engel H, Benhamron S, Nitzan K, Sweetat S, Permyakova A, Mordechai A, Akman HO, Rosenmann H, Lossos A, Tam J, Minassian BA, Weil M. Kakhlon O, et al. Among authors: marisat m. EMBO Mol Med. 2021 Oct 7;13(10):e14554. doi: 10.15252/emmm.202114554. Epub 2021 Sep 6. EMBO Mol Med. 2021. PMID: 34486811 Free PMC article.
Pharmacokinetics and pharmacodynamics of thiopurines in an in vitro model of human hepatocytes: Insights from an innovative mass spectrometry assay.
Pelin M, Genova E, Fusco L, Marisat M, Hofmann U, Favretto D, Lucafò M, Taddio A, Martelossi S, Ventura A, Stocco G, Schwab M, Decorti G. Pelin M, et al. Among authors: marisat m. Chem Biol Interact. 2017 Sep 25;275:189-195. doi: 10.1016/j.cbi.2017.08.009. Epub 2017 Aug 12. Chem Biol Interact. 2017. PMID: 28811125 Free article.