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Title:

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Author(s):
O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Mor-Shaked, Hagar; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M
Abstract:
Inosine 5' monophosphate dehydrogenase (IMPDH) is a critical regulatory enzyme in purine nucleotide biosynthesis that is inhibited by the downstream product GTP. Multiple point mutations in the human isoform IMPDH2 have recently been associated with dystonia and other neurodevelopmental disorders, but the effect of the mutations on enzyme function has not been described. Here, we report the identification of two additional missense variants in IMPDH2 from affected individuals and show that all o...     »
Journal title abbreviation:
J Biol Chem
Year:
2023
Journal volume:
299
Journal issue:
8
Fulltext / DOI:
doi:10.1016/j.jbc.2023.105012
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37414152
Print-ISSN:
0021-9258
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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