Cardiac disruption of SDHAF4-mediated mitochondrial complex II assembly promotes dilated cardiomyopathy.

Study details

Source ID

https://identifiers.org/metabolights:MTBLS4579

Title

Cardiac disruption of SDHAF4-mediated mitochondrial complex II assembly promotes dilated cardiomyopathy.

Summary

SDHAF4 disruption causes cardiomyopathy.

Observation

Cardiac loss of Sdhaf4 and its effects on complex II.

Findings

SDHAF4 loss leads to cardiomyopathy; fumarate improves cardiac function.

Disease terms

heart failure, mitochondrial complex II, complex II deficiency, dilated cardiomyopathy, myocardial infarction, heart diseases

Gene terms

succinate dehydrogenase assembly factor 4, dynamin-related protein 1, Sdhaf4, SDHAF4

Chemical terms

fumarate

Organisms

mice, patients, human

Raw data (JSON) Show

Also available at /api/study/https://identifiers.org/metabolights:MTBLS4579.

{
  "@type": "Dataset",
  "go_id": [
    "https://identifiers.org/GO:0009056",
    "https://identifiers.org/GO:0005739",
    "https://identifiers.org/GO:0000423",
    "https://identifiers.org/GO:0000266"
  ],
  "go_kw": [
    "degradation",
    "mitochondria",
    "mitophagy",
    "mitochondrial fission"
  ],
  "integmet_study": "MTBLS4579",
  "mesh_chemical_id": [
    "https://identifiers.org/mesh:D005650"
  ],
  "mesh_chemical_pubtator_kw": [
    "fumarate"
  ],
  "mesh_disease_id": [
    "https://identifiers.org/mesh:D006333",
    "https://identifiers.org/mesh:C565375",
    "https://identifiers.org/mesh:D002311",
    "https://identifiers.org/mesh:D009203",
    "https://identifiers.org/mesh:D006331"
  ],
  "mesh_disease_pubtator_kw": [
    "heart failure",
    "mitochondrial complex II",
    "complex II deficiency",
    "dilated cardiomyopathy",
    "myocardial infarction",
    "heart diseases"
  ],
  "mesh_gene_id": [
    "https://identifiers.org/ncbigene:135154",
    "https://identifiers.org/ncbigene:74006",
    "https://identifiers.org/ncbigene:68002"
  ],
  "mesh_gene_pubtator_kw": [
    "succinate dehydrogenase assembly factor 4",
    "dynamin-related protein 1",
    "Sdhaf4",
    "SDHAF4"
  ],
  "ncbi_taxonomy_id": [
    "https://identifiers.org/taxonomy:10090",
    "https://identifiers.org/taxonomy:9606"
  ],
  "ncbi_taxonomy_pubtator_kw": [
    "mice",
    "patients",
    "human"
  ],
  "source_id": "https://identifiers.org/metabolights:MTBLS4579",
  "study_findings": "SDHAF4 loss leads to cardiomyopathy; fumarate improves cardiac function.",
  "study_observation": "Cardiac loss of Sdhaf4 and its effects on complex II.",
  "study_summary": "SDHAF4 disruption causes cardiomyopathy.",
  "study_title_original": "Cardiac disruption of SDHAF4-mediated mitochondrial complex II assembly promotes dilated cardiomyopathy."
}