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

Mitochondrial dysfunction in mut methylmalonic acidemia.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Apr 2009

Chandler Randy J, Zerfas Patricia M, Shanske Sara, Sloan Jennifer, Hoffmann Victoria, DiMauro Salvatore, Venditti Charles P

Abstract excerpt

Methylmalonic acidemia is an autosomal recessive inborn error of metabolism caused by defective activity of methylmalonyl-CoA mutase (MUT) that exhibits multiorgan system pathology. To examine whether mitochondrial dysfunction is a feature of this organic acidemia, a background-modified Mut-knockout mouse model was constructed and used to examine mitochondrial ultrastructure and respiratory chain function in the...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Crosses, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex IV

Share to Glutathione

Share to Homozygote

Share to Methylmalonyl-CoA Mutase

Share to Mitochondria

Share to Oxidative Stress

Source

Open in PubMed Open full text

Identifiers

PMID: 19088183
DOI: 10.1096/fj.08-121848
PMCID: PMC2660647

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

Mitochondrial dysfunction in mut methylmalonic acidemia.PMID 19088183Read ↗

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.Semantic proximity Read ↗

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.Semantic proximity Read ↗

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.Semantic proximity Read ↗

Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.Semantic proximity Read ↗

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.Semantic proximity Read ↗

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.Semantic proximity Read ↗

Integration of proteomics and metabolomics data in a novel cellular knock out model of methylmalonic acidemiaSemantic proximity Read ↗

Mitochondrial Dysfunction Induces Hepatic Lipid Accumulation and Inflammatory Responses in mtDNA Mutator MiceSemantic proximity Read ↗

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.Semantic proximity Read ↗

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Semantic proximity Read ↗

Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery.Semantic proximity Read ↗

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiencySemantic proximity Read ↗

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