The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

Study details

Source ID

https://identifiers.org/metabolights:MTBLS4013

Title

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

Summary

Bbs1 affects photoreceptor protein and lipid composition.

Observation

Retinal development, photoreceptor differentiation, OS protein and lipid composition in bbs1 zebrafish mutant.

Findings

Bbs1-loss disrupts OS lipid homeostasis, leading to visual deficits and retinal degeneration.

Disease terms

visual deficits, OS morphological anomalies, Bardet-Biedl syndrome, retinal degeneration, BBS, Retinal degeneration, ciliopathies, ciliopathy disorders

Gene terms

Bbs1, BBS1, bbs1

Chemical terms

cholesterol, lipid

Organisms

zebrafish

Raw data (JSON) Show

Also available at /api/study/https://identifiers.org/metabolights:MTBLS4013.

{
  "@type": "Dataset",
  "go_id": [
    "https://identifiers.org/GO:0055088",
    "https://identifiers.org/GO:0060041",
    "https://identifiers.org/GO:0005929"
  ],
  "go_kw": [
    "lipid homeostasis",
    "retinal development",
    "primary cilia"
  ],
  "integmet_study": "MTBLS4013",
  "mesh_chemical_id": [
    "https://identifiers.org/mesh:D002784",
    "https://identifiers.org/mesh:D008055"
  ],
  "mesh_chemical_pubtator_kw": [
    "cholesterol",
    "lipid"
  ],
  "mesh_disease_id": [
    "https://identifiers.org/mesh:D014786",
    "https://identifiers.org/mesh:C567932",
    "https://identifiers.org/mesh:D020788",
    "https://identifiers.org/mesh:D012162",
    "https://identifiers.org/mesh:D000072661"
  ],
  "mesh_disease_pubtator_kw": [
    "visual deficits",
    "OS morphological anomalies",
    "Bardet-Biedl syndrome",
    "retinal degeneration",
    "BBS",
    "Retinal degeneration",
    "ciliopathies",
    "ciliopathy disorders"
  ],
  "mesh_gene_id": [
    "https://identifiers.org/ncbigene:568986"
  ],
  "mesh_gene_pubtator_kw": [
    "Bbs1",
    "BBS1",
    "bbs1"
  ],
  "ncbi_taxonomy_id": [
    "https://identifiers.org/taxonomy:7955"
  ],
  "ncbi_taxonomy_pubtator_kw": [
    "zebrafish"
  ],
  "source_id": "https://identifiers.org/metabolights:MTBLS4013",
  "study_findings": "Bbs1-loss disrupts OS lipid homeostasis, leading to visual deficits and retinal degeneration.",
  "study_observation": "Retinal development, photoreceptor differentiation, OS protein and lipid composition in bbs1 zebrafish mutant.",
  "study_summary": "Bbs1 affects photoreceptor protein and lipid composition.",
  "study_title_original": "The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition"
}