2008
DOI: 10.1203/pdr.0b013e3181799562
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Model Mice for Mild-Form Glycine Encephalopathy: Behavioral and Biochemical Characterizations and Efficacy of Antagonists for the Glycine Binding Site of N-Methyl D-Aspartate Receptor

Abstract: Glycine encephalopathy (GE) is caused by an inherited deficiency of the glycine cleavage system (GCS) and characterized by accumulation of glycine in body fluids and various neurologic symptoms. Coma and convulsions develop in neonates in typical GE while psychomotor retardation and behavioral abnormalities in infancy and childhood are observed in mild GE. Recently, we have established a transgenic mouse line (low-GCS) with reduced GCS activity (29% of wild-type (WT) C57BL/6) and accumulation of glycine in the… Show more

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Cited by 8 publications
(5 citation statements)
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“…A previous NKH mouse model had more prolonged seizures following an electroconvulsive shock. 38,39 Cross breeding the mutation to a strain with greater epilepsy propensity (e.g. DBA/2J) may provide a mouse model that better recapitulates this feature in humans.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…A previous NKH mouse model had more prolonged seizures following an electroconvulsive shock. 38,39 Cross breeding the mutation to a strain with greater epilepsy propensity (e.g. DBA/2J) may provide a mouse model that better recapitulates this feature in humans.…”
Section: Discussionmentioning
confidence: 99%
“…A dominant negative transgene activated in neural stem cells results in microcephaly, early demise (<38 d), and fatal status epilepticus, 37 whereas a mild dominant negative transgene with 29-33% residual activity exhibits some behavioral changes and longer convulsive phases after electroshock. 38,39 A gene trap in the AMT gene on a C57BL/6 (B6) background with no residual activity was embryonically lethal due to neural tube defects. 40 Unfortunately, these mouse models are no longer available.…”
Section: Introductionmentioning
confidence: 99%
“… Glycine on cultured hippocampal rat slices ↑ excitability & neurotoxicity Glycine on auditory brain stem rat slices ↑ transmitter release 95% ↓ Gcs mice & Amt deletion in mice Neural tube defects 29% ↓ GCS mice Longer electroshock induced tonic–clonic seizures High locomotor activity and anxiety behavior Severe neuronal injury after focal cerebral ischemia Glyt1 KO mice abnormal respiration reversed by strychnine …”
Section: Metabolic Errors In Organic Moleculesmentioning
confidence: 99%
“…However, neither report mentions any seizure phenotype. On the other hand, in a model of mild‐type glycine encephalopathy, mice with 29% reduced GCS activity (low GCS) show a longer duration of tonic or clonic seizures induced by electroshock, and higher locomotor activity and anxiety‐related behavior, which can be partially reversed by NMDA antagonists specific to the glycine‐binding site of the receptor . Likewise, after focal cerebral ischemia, mice with low GCS activity demonstrate greater neuronal injury compared to wild‐type (WT) animals …”
Section: Metabolic Errors In Organic Moleculesmentioning
confidence: 99%
“…A few research efforts have been made to model the disease. Mice with a loss-of-function gene trap allele and those with a dominant-negative gldc mutation, showing features of GE, such as early lethality, increased glycine, and hydrocephalus, were generated (7,8). A zebrafish model was described in which hyperglycinemia is restricted to the brain, but it cannot be used to study the classical form of the disease (9).…”
Section: Introductionmentioning
confidence: 99%