Article
DTYMK is essential for genome integrity and neuronal survival.
Acta neuropathologica - 1 Feb 2022
Vanoevelen Jo M, Bierau Jörgen, Grashorn Janine C, Lambrichs Ellen, Kamsteeg Erik-Jan, Bok Levinus A, Wevers Ron A, van der Knaap Marjo S, Bugiani Marianna, Frisk Junmei Hu, Colnaghi Rita, O'Driscoll Mark, Hellebrekers Debby M E I, Rodenburg Richard, Ferreira Carlos R, Brunner Han G, van den Wijngaard Arthur, Abdel-Salam Ghada M H, Wang Liya, Stumpel Constance T R M
Abstract excerpt
Nucleotide metabolism is a complex pathway regulating crucial cellular processes such as nucleic acid synthesis, DNA repair and proliferation. This study shows that impairment of the biosynthesis of one of the building blocks of DNA, dTTP, causes a severe, early-onset neurodegenerative disease. Here, we describe two unrelated children with bi-allelic variants in DTYMK, encoding dTMPK, which catalyzes the...
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