Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

doi:10.1007/s10545-015-9909-6

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Article

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

Journal of inherited metabolic disease - 1 Mar 2016

Korner Germaine, Scherer Tanja, Adamsen Dea, Rebuffat Alexander, Crabtree Mark, Rassi Anahita, Scavelli Rossana, Homma Daigo, Ledermann Birgit, Konrad Daniel, Ichinose Hiroshi, Wolfrum Christian, Horsch Marion, Rathkolb Birgit, Klingenspor Martin, Beckers Johannes, Wolf Eckhard, Gailus-Durner Valérie, Fuchs Helmut, Hrabě de Angelis Martin, Blau Nenad, Rozman Jan, Thöny Beat

Abstract excerpt

Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). Inborn errors of BH4 metabolism lead to severe insufficiency of brain monoamine neurotransmitters while augmentation of BH4 by supplementation or stimulation of its biosynthesis is thought to ameliorate endothelial NOS (eNOS) dysfunction, to protect from...

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PMID: 26830550
DOI: 10.1007/s10545-015-9909-6

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