Article

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

2024-03-29

Abstract excerpt

Nonketotic hyperglycinemia due to deficient glycine cleavage enzyme activity causes a severe neonatal epileptic encephalopathy. Current therapies based on mitigating glycine excess have only limited impact. An animal model with postnatal phenotyping is needed to explore new therapeutic approaches. We developed a Gldc p.Ala394Val mutant model and bred it to congenic status in 2 colonies on C57Bl/6J (B6) and J129X1...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 004dc1b1-50fe-52ef-bd97-a89326a392ff
DOI: 10.1101/2024.03.26.586818

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemiaDOI 10.1101/2024.03.26.586818Read

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.Semantic proximity Read

AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic HyperglycinemiaSemantic proximity Read

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.Semantic proximity Read

Genomic analyses of glycine decarboxylase neurogenic mutations, yield a large scale prediction model for prenatal diseaseSemantic proximity Read

Glycine receptor mouse mutants: model systems for human hyperekplexia.Semantic proximity Read

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.Semantic proximity Read

β-hydroxybutyrate improves convulsions in mice carrying the <i>GRIN1</i> Y647S/+ pathogenic variantSemantic proximity Read

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.Semantic proximity Read

Modeling and treating <i>GRIN2A</i> developmental and epileptic encephalopathy in miceSemantic proximity Read

GABAergic signaling promotes early-life seizures in epileptic SYNGAP1 <sup>+/-</sup> miceSemantic proximity Read

Mouse Models Characterize GNAO1 Encephalopathy as a Neurodevelopmental Disorder Leading to Motor Anomalies: from a Severe G203R to a Milder C215Y MutationSemantic proximity Read

Variants in glycine decarboxylase activate mechanisms of mitochondrial energy metabolism in the brainSemantic proximity Read