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

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 homeost...

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Bibliographic Details
Published in:	Neuron (Cambridge, Mass.) Vol. 107; no. 1; pp. 3 - 5
Main Authors:	Rakotomamonjy, Jennifer, Rylaarsdam, Lauren, Guemez-Gamboa, Alicia
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 08-07-2020 Elsevier Limited
Subjects:	Apoptosis Biosynthesis Brain Diseases - metabolism Enzymes Failure to thrive Genotype & phenotype Glycine Homeostasis Humans Leukodystrophy Metabolism Neurodegeneration Neurons Patients Pyrroline Carboxylate Reductases Ubiquitin-Protein Ligases - metabolism
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Summary:	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. 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 ObjectType-Commentary-3 content type line 23
ISSN:	0896-6273 1097-4199
DOI:	10.1016/j.neuron.2020.06.007