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

Jennifer Rakotomamonjy; Lauren Rylaarsdam; Alicia Guemez-Gamboa

doi:10.1016/j.neuron.2020.06.007

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

Jennifer Rakotomamonjy, Lauren Rylaarsdam, Alicia Guemez-Gamboa^*

^*Corresponding author for this work

Neuroscience

Research output: Contribution to journal › Comment/debate › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	3-5
Number of pages	3
Journal	Neuron
Volume	107
Issue number	1
DOIs	https://doi.org/10.1016/j.neuron.2020.06.007
State	Published - Jul 8 2020

ASJC Scopus subject areas

Neuroscience(all)

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10.1016/j.neuron.2020.06.007

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title = "PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye",

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.",

author = "Jennifer Rakotomamonjy and Lauren Rylaarsdam and Alicia Guemez-Gamboa",

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AU - Rylaarsdam, Lauren

AU - Guemez-Gamboa, Alicia

PY - 2020/7/8

Y1 - 2020/7/8

N2 - 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.

AB - 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.

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

Abstract

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