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Fig. 2 | Human Genomics

Fig. 2

From: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase

Fig. 2

GDH wild type and p.G446V molecular structures. Molecular models for closed (a, b) and opened (c, d) conformations of GDH wild type (left) and mutated form p.G446V (right) based on the structure of human GDH (PDB: 1L1F) aligned to open and closed structures of bovine GDH derived from cryo-electron microscopy [19] (PDB: 3JD2 and 3JD4). Different colors highlight each monomer of the trimer of GDH assembly displayed from the top view with location of the mutation p.G446V (yellow ball structure) and co-factors (balls structures: orange NADH and red GTP). (c, d) Single subunit of GDH (side view) with highlighted mutation on the descending helix

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