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Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione.
Peracchi A, Veiga-da-Cunha M, Kuhara T, Ellens KW, Paczia N, Stroobant V, Seliga AK, Marlaire S, Jaisson S, Bommer GT, Sun J, Huebner K, Linster CL, Cooper AJL, Van Schaftingen E. Peracchi A, et al. Among authors: paczia n. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3233-E3242. doi: 10.1073/pnas.1613736114. Epub 2017 Apr 3. Proc Natl Acad Sci U S A. 2017. PMID: 28373563 Free PMC article.
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.
Veiga-da-Cunha M, Chevalier N, Stephenne X, Defour JP, Paczia N, Ferster A, Achouri Y, Dewulf JP, Linster CL, Bommer GT, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: paczia n. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1241-1250. doi: 10.1073/pnas.1816143116. Epub 2019 Jan 9. Proc Natl Acad Sci U S A. 2019. PMID: 30626647 Free PMC article.
Connecting environmental exposure and neurodegeneration using cheminformatics and high resolution mass spectrometry: potential and challenges.
Schymanski EL , Baker NC , Williams AJ , Singh RR , Trezzi JP , Wilmes P , Kolber PL , Kruger R , Paczia N , Linster CL , Balling R . Schymanski EL , et al. Among authors: paczia n. Environ Sci Process Impacts. 2019 Sep 18;21(9):1426-1445. doi: 10.1039/c9em00068b. Environ Sci Process Impacts. 2019. PMID: 31305828
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H. Van Bergen NJ, et al. Among authors: paczia n. Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. Brain. 2019. PMID: 30576410
PARK7/DJ-1 promotes pyruvate dehydrogenase activity and maintains Treg homeostasis during ageing.
Danileviciute E, Zeng N, Capelle CM, Paczia N, Gillespie MA, Kurniawan H, Benzarti M, Merz MP, Coowar D, Fritah S, Vogt Weisenhorn DM, Gomez Giro G, Grusdat M, Baron A, Guerin C, Franchina DG, Léonard C, Domingues O, Delhalle S, Wurst W, Turner JD, Schwamborn JC, Meiser J, Krüger R, Ranish J, Brenner D, Linster CL, Balling R, Ollert M, Hefeng FQ. Danileviciute E, et al. Among authors: paczia n. Nat Metab. 2022 May;4(5):589-607. doi: 10.1038/s42255-022-00576-y. Epub 2022 May 26. Nat Metab. 2022. PMID: 35618940
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