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Loss-of-function variants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic mechanisms are unknown. In this issue of Neuron, Escande-Beillard et al. (2020) reveal that PYRC2 is… Click to show full abstract
Loss-of-function variants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic mechanisms are unknown. In this issue of Neuron, Escande-Beillard et al. (2020) reveal that PYRC2 is a key enzyme for proper brain development and a regulator of glycine homeostasis, uncovering hyperglycinemia as a driver of HLD10 pathogenesis.
Keywords:
hypomyelinating leukodystrophy;
pyrc2 related;
leukodystrophy meets;
leukodystrophy;
related hypomyelinating
Journal Title: Neuron
Year Published: 2020
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Journal Title: Neuron
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!