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

Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy

3 Jun 2022

Abstract excerpt

Inherited glycosylphosphatidylinositol (GPI) deficiency (IGD) is caused by mutations in GPI biosynthesis genes. The mechanisms of its systemic, especially neurological, symptoms are not clarified and fundamental therapy has not been established. Here, we report establishment of mouse models of IGD caused by PIGO mutations as well as development of effective gene therapy. As the clinical manifestations of IGD are...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Trypanosoma species research and implications
Share to Virus-based gene therapy research

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35661110
DOI: 10.1038/s41467-022-30847-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapyPMID 35661110Read ↗

AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse modelsSemantic proximity Read ↗

Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous systemSemantic proximity Read ↗

Genetic Dissection of the role of <i>Piga</i> and <i>Pgap2</i> in the embryonic mouse brainSemantic proximity Read ↗

A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctionsSemantic proximity Read ↗

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Semantic proximity Read ↗

Genetically modified pigs for biomedical researchSemantic proximity Read ↗

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.Semantic proximity Read ↗

CNS Glycosylphosphatidylinositol Deficiency Results in Delayed White Matter Development, Ataxia, and Premature Death in a Novel Mouse ModelSemantic proximity Read ↗

CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model.Semantic proximity Read ↗

<i>Drosophila</i> models of PIGA-CDG mirror patient phenotypesSemantic proximity Read ↗

PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation.Semantic proximity Read ↗

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe DiseaseSemantic proximity Read ↗

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