Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity

[Image: see text] Deoxythymidylate kinase (TMPK) is a key enzyme in the synthesis of deoxythymidine triphosphate (dTTP). Four TMPK variants (P81L, A99T, D128N, and a frameshift) have been identified in human patients who suffered from severe neurodegenerative diseases. However, the impact of these m...

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Detalles Bibliográficos
Autores principales: Frisk, Junmei Hu, Vanoevelen, Jo M., Bierau, Jörgen, Pejler, Gunnar, Eriksson, Staffan, Wang, Liya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Chemical Society 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679000/
https://www.ncbi.nlm.nih.gov/pubmed/34926941
http://dx.doi.org/10.1021/acsomega.1c05288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679000/
https://www.ncbi.nlm.nih.gov/pubmed/34926941
http://dx.doi.org/10.1021/acsomega.1c05288

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