Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Yoko Nakajima,Judith Meijer,Doreen Dobritzsch,Tetsuya Ito,Chunhua Zhang,Xu Wang,Yoriko Watanabe,Kyoko Tashiro,Rutger Meinsma,Jeroen Roelofsen,Lida Zoetekouw,André B.P. van Kuilenburg

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

2017

Yoko Nakajima
Judith Meijer
Doreen Dobritzsch
Tetsuya Ito
Chunhua Zhang
Xu Wang
Yoriko Watanabe
Kyoko Tashiro
Rutger Meinsma
Jeroen Roelofsen
Lida Zoetekouw
André B.P. van Kuilenburg

Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyzes the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 31 genetically confirm ...

Keywords:

Enzyme
Dihydropyrimidinase
Genetics
Pyrimidine
Biology
DIHYDROPYRIMIDINASE DEFICIENCY
Medical genetics
Biochemistry
degradation pathway
structural integrity

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