Associated Papers
The neuropathological mechanisms underlying the inborn errors of lysine metabolism.
Guo Y et al.
Neurobiology of Disease, 2026
Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy.
Liang Z et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.
Leandro J et al.
Open Biology, 2022
The Metabolite Saccharopine Impairs Neuronal Development by Inhibiting the Neurotrophic Function of Glucose-6-Phosphate Isomerase.
Guo Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022
Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
Leandro J et al.
Journal of Inherited Metabolic Disease, 2020
Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly.
Naseer MI et al.
Saudi Journal of Biological Sciences, 2020
The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis.
Zhou J et al.
The Journal of Cell Biology, 2019
30573525 (PubMed )
Supplement: JCB_201807204_sm.pdf
Genetic basis of hyperlysinemia.
Houten SM et al.
Orphanet Journal of Rare Diseases, 2013
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