PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye

Jennifer Rakotomamonjy, Lauren Rylaarsdam, Alicia Guemez-Gamboa*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)3-5
Number of pages3
JournalNeuron
Volume107
Issue number1
DOIs
StatePublished - Jul 8 2020

ASJC Scopus subject areas

  • Neuroscience(all)

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