Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.

Journal of inherited metabolic disease - 1 Sept 2024

Swanson Michael A, Jiang Hua, Busquet Nicolas, Carlsen Jessica, Brindley Connie, Benke Tim A, Van Hove Roxanne A, Friederich Marisa W, MacLean Kenneth N, Mesches Michael H, Van Hove Johan L K

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 two colonies on C57Bl/6J (B6) and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Animals, Newborn
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Models, Animal

Share to Glycine

Share to Hydrocephalus

Share to Mice, Inbred C57BL

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 38840294
DOI: 10.1002/jimd.12755
PMCID: PMC11563928

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.PMID 38840294Read ↗

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemiaSemantic proximity Read ↗

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

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

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

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

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

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality.Semantic proximity Read ↗

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.Semantic proximity Read ↗

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.Semantic proximity Read ↗

The glycinergic system in human startle disease: a genetic screening approachSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.