PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye
| Autor: | Lauren Rylaarsdam, Jennifer Rakotomamonjy, Alicia Guemez-Gamboa |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Brain Diseases Brain development Hyperglycinemia General Neuroscience Ubiquitin-Protein Ligases Regulator Pyrroline Carboxylate Reductases Glycine Biology medicine.disease Hypomyelinating leukodystrophy 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine Humans Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Neuron. 107(1) |
| ISSN: | 1097-4199 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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