enzymes

  1. SNT Gatchaman

    A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia, 2025, Jacobs et al.

    A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia Living cells depend on an intricate network of chemical reactions catalysed by enzymes, which sometimes make mistakes that lead to their inactivation. Here we report a metabolite-based mechanism for preserving enzyme...
  2. MyalgicE

    Mitochondrial stress causes neuronal dysfunction via an ATF4-dependent increase in L-2-hydroxyglutarate (2019) Hunt et al

    Abstract Mitochondrial stress contributes to a range of neurological diseases. Mitonuclear signaling pathways triggered by mitochondrial stress remodel cellular physiology and metabolism. How these signaling mechanisms contribute to neuronal dysfunction and disease is poorly understood. We find...
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