Article

Gene therapy prevents disease and death from non-ketotic hyperglycinemia

2025-03-31

Abstract excerpt

Genetic defects in glycine decarboxylase (GLDC) cause non-ketotic hyperglycinemia (NKH), a rare and frequently fatal neurometabolic disease, which lacks FDA-approved therapies. We characterized CRISPR Cas9-edited humanized mice expressing a prevalent clinical mutation after administration with a single intraperitoneal dose of a novel recombinant of adeno-associated viral vector 9 expressing GLDC (rAAV9-GLDC). Long...

Topics

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

Identifiers and source

Literature Corpus work: e8c10814-3ffa-569c-8405-3b49c9e25370
DOI: 10.1101/2025.03.26.645560

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Gene therapy prevents disease and death from non-ketotic hyperglycinemiaDOI 10.1101/2025.03.26.645560Read

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

CRISPR/Cas9 Editing for Gaucher Disease Modelling.Semantic proximity Read

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocytes Model Derived From a Nonketotic Hyperglycinemia PatientSemantic proximity Read

Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan diseaseSemantic proximity Read

Targeting <i>Gys1</i> with AAV‐SaCas9 decreases pathogenic polyglucosan bodies and neuroinflammation in Adult Polyglucosan Body and Lafora disease mouse modelsSemantic proximity Read

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytesSemantic proximity Read

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

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compoundsSemantic proximity Read

Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe's Disease after Global Gene Therapy.Semantic proximity Read

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs DiseaseSemantic proximity Read