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Titel:

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

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Autor(en):
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...     »
Zeitschriftentitel:
J Biol Chem
Jahr:
2023
Band / Volume:
299
Heft / Issue:
8
Volltext / DOI:
doi:10.1016/j.jbc.2023.105012
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37414152
Print-ISSN:
0021-9258
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
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