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

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.

Gene therapy - 1 Oct 2017

Di Meo I, Marchet S, Lamperti C, Zeviani M, Viscomi C

Abstract excerpt

Leigh syndrome (LS) is the most common infantile mitochondrial encephalopathy. No treatment is currently available for this condition. Mice lacking Ndufs4, encoding NADH: ubiquinone oxidoreductase iron-sulfur protein 4 (NDUFS4) recapitulates the main findings of complex I (cI)-related LS, including severe multisystemic cI deficiency and progressive neurodegeneration. In order to develop a gene therapy approach...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Dependovirus
Share to Electron Transport Complex I

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

Share to Genetic Therapy

Share to Genetic Vectors

Share to Injections, Intravenous

Share to Leigh Disease

Share to Mice, Inbred C57BL

Source

Open in PubMed Open full text

Identifiers

PMID: 28753212
DOI: 10.1038/gt.2017.53
PMCID: PMC5658670

Genes

NDUFS4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.PMID 28753212Read ↗

Gene replacement therapy provides benefit in an adult mouse model of Leigh syndromeSemantic proximity Read ↗

Iron Status Influences Mitochondrial Disease Progression in Complex I-Deficient MiceSemantic proximity Read ↗

Fatal breathing dysfunction in a mouse model of Leigh syndromeSemantic proximity Read ↗

IFNγ modestly contributes to disease progression in the <i>Ndufs4</i> (-/-) model of Leigh syndrome while IP10 is dispensableSemantic proximity Read ↗

Amelioration of Leigh syndrome induced by mouse blastocyst complementation with a mutant human mitochondrial ATP synthase 6Semantic proximity Read ↗

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome.Semantic proximity Read ↗

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.Semantic proximity Read ↗

Defined neuronal populations drive fatal phenotype in Leigh SyndromeSemantic proximity Read ↗

Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndromeSemantic proximity Read ↗

Peripheral macrophages causally contribute to disease onset and progression in the <i>Ndufs4</i> (KO) model of Leigh syndromeSemantic proximity Read ↗

Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice.Semantic proximity Read ↗

<i>MyD88</i> deficiency modestly attenuates disease in a Leigh syndrome mouse model while enrofloxacin accelerates diseaseSemantic proximity Read ↗

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