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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: linster cl. Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. Brain. 2019. PMID: 30576410
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen NJ, Gunanayagam K, Bournazos AM, Walvekar AS, Warmoes MO, Semcesen LN, Lunke S, Bommireddipalli S, Sikora T, Patraskaki M, Jones DL, Garza D, Sebire D, Gooley S, McLean CA, Naidoo P, Rajasekaran M, Stroud DA, Linster CL, Wallis M, Cooper ST, Christodoulou J. Van Bergen NJ, et al. Among authors: linster cl. Int J Mol Sci. 2023 Feb 10;24(4):3582. doi: 10.3390/ijms24043582. Int J Mol Sci. 2023. PMID: 36834994 Free PMC article.
Metabolite damage and its repair or pre-emption.
Linster CL, Van Schaftingen E, Hanson AD. Linster CL, et al. Nat Chem Biol. 2013 Feb;9(2):72-80. doi: 10.1038/nchembio.1141. Nat Chem Biol. 2013. PMID: 23334546 Review.
48 results