Deficient Endoplasmic Reticulum-Mitochondrial Phosphatidylserine Transfer Causes Liver Disease.

Study details

Source ID

https://identifiers.org/metabolights:MTBLS600

Title

Deficient Endoplasmic Reticulum-Mitochondrial Phosphatidylserine Transfer Causes Liver Disease.

Summary

Mfn2 deficiency causes liver disease via PS transfer disruption.

Observation

Mfn2 expression in liver biopsies and mouse models of NASH.

Findings

Mfn2 deficiency disrupts PS transfer, causing ER stress and liver disease.

Disease terms

liver disease, inflammation, Liver Disease, Non-alcoholic fatty liver, steatosis, non-alcoholic steatohepatitis, liver cancer, fibrosis, NASH

Gene terms

Mfn2, mitofusin 2

Chemical terms

phosphatidylserine, phosphatidylethanolamine, phospholipid, PE, Phosphatidylserine, PS

Organisms

mice, mouse, patients

Raw data (JSON) Show

Also available at /api/study/https://identifiers.org/metabolights:MTBLS600.

{
  "@type": "Dataset",
  "go_id": [
    "https://identifiers.org/GO:0006954",
    "https://identifiers.org/GO:0008654",
    "https://identifiers.org/GO:0001786"
  ],
  "go_kw": [
    "inflammation",
    "phospholipid synthesis",
    "phosphatidylserine binding"
  ],
  "integmet_study": "MTBLS600",
  "mesh_chemical_id": [
    "https://identifiers.org/mesh:D010718",
    "https://identifiers.org/mesh:C483858",
    "https://identifiers.org/mesh:D010743"
  ],
  "mesh_chemical_pubtator_kw": [
    "phosphatidylserine",
    "phosphatidylethanolamine",
    "phospholipid",
    "PE",
    "Phosphatidylserine",
    "PS"
  ],
  "mesh_disease_id": [
    "https://identifiers.org/mesh:D008107",
    "https://identifiers.org/mesh:D007249",
    "https://identifiers.org/mesh:D065626",
    "https://identifiers.org/mesh:D005234",
    "https://identifiers.org/mesh:D005235",
    "https://identifiers.org/mesh:D006528",
    "https://identifiers.org/mesh:D005355"
  ],
  "mesh_disease_pubtator_kw": [
    "liver disease",
    "inflammation",
    "Liver Disease",
    "Non-alcoholic fatty liver",
    "steatosis",
    "non-alcoholic steatohepatitis",
    "liver cancer",
    "fibrosis",
    "NASH"
  ],
  "mesh_gene_id": [
    "https://identifiers.org/ncbigene:9927",
    "https://identifiers.org/ncbigene:170731"
  ],
  "mesh_gene_pubtator_kw": [
    "Mfn2",
    "mitofusin 2"
  ],
  "ncbi_taxonomy_id": [
    "https://identifiers.org/taxonomy:10090",
    "https://identifiers.org/taxonomy:9606"
  ],
  "ncbi_taxonomy_pubtator_kw": [
    "mice",
    "mouse",
    "patients"
  ],
  "source_id": "https://identifiers.org/metabolights:MTBLS600",
  "study_findings": "Mfn2 deficiency disrupts PS transfer, causing ER stress and liver disease.",
  "study_observation": "Mfn2 expression in liver biopsies and mouse models of NASH.",
  "study_summary": "Mfn2 deficiency causes liver disease via PS transfer disruption.",
  "study_title_original": "Deficient Endoplasmic Reticulum-Mitochondrial Phosphatidylserine Transfer Causes Liver Disease."
}