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

The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes.

PloS one - 15 Sept 2008

Bénit Paule, Goncalves Sergio, Dassa Emmanuel Philippe, Brière Jean-Jacques, Rustin Pierre

Abstract excerpt

BACKGROUND: Despite the considerable progress made in understanding the molecular bases of mitochondrial diseases, no effective treatments have been developed to date. Faithful animal models would be extremely helpful for designing such treatments. We showed previously that the Harlequin mouse phenotype was due to a specific mitochondrial complex I deficiency resulting from the loss of the Apoptosis Inducing...

Read the complete abstract on PubMed

Topics

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

Share to Antioxidants
Share to Brain
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria

Share to Models, Genetic

Share to Reproducibility of Results

Share to Superoxide Dismutase

Share to Time Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 18791645
DOI: 10.1371/journal.pone.0003208
PMCID: PMC2527683

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes.PMID 18791645Read ↗

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal NeuropathologySemantic proximity Read ↗

Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice.Semantic proximity Read ↗

Apoptosis-inducing factor regulates skeletal muscle progenitor cell number and muscle phenotype.Semantic proximity Read ↗

A disease-associated Aifm1 variant induces severe myopathy in knockin mice.Semantic proximity Read ↗

Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.Semantic proximity Read ↗

Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapySemantic proximity Read ↗

The harlequin mouse mutation downregulates apoptosis-inducing factor.Semantic proximity Read ↗

EUK-8, a superoxide dismutase and catalase mimetic, reduces cardiac oxidative stress and ameliorates pressure overload-induced heart failure in the harlequin mouse mutant.Semantic proximity Read ↗

Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements.Semantic proximity Read ↗

Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy.Semantic proximity Read ↗

Spontaneous mutation frequency is elevated in skin of harlequin (hq)/Big Blue mice.Semantic proximity Read ↗

Mutation frequency is not elevated in the cerebellum of harlequin/Big Blue(®) mice but Class II deletions occur preferentially in young harlequin cerebellum.Semantic proximity Read ↗

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