ArticleAmerican journal of human genetics2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Integrated transcriptomic and metabolomic analysis reveals potential candidate genes and regulatory pathways associated with egg weight in geese.Poultry science · 2026Article
- Atorvastatin promotes lipid catabolism in colorectal cancer via FDFT1‒mediated inhibition of the PI3K/AKT pathway.Cell communication and signaling : CCS · 2026Article
- Genetic associations and candidate functional genes linking depression and obesity: a multi-omics integrative study.Frontiers in genetics · 2026Article
- Genomic relationship between polycystic ovary syndrome and bipolar disorder.Research square · 2025Article
- The Role of Cholesterol Metabolism and Its Regulation in Tumor Development.Cancer medicine · 2025Review
- Embryotoxicity of statins and other prescribed drugs with reported off-target effects on cholesterol biosynthesis.Reproductive toxicology (Elmsford, N.Y.) · 2025Article
- Estrogen EnhancesBiomolecules · 2024Article
- Endothelial Cells Mediated by STING Regulate Oligodendrogenesis and Myelination During Brain Development.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Identification of novel molecules and pathways associated with fascin actin‑bundling protein 1 in laryngeal squamous cell carcinoma through comprehensive transcriptome analysis.International journal of molecular medicine · 2024Article
- Identification of non-conventional small molecule degraders and stabilizers of squalene synthase.Chemical science · 2023Article
- 3International journal of molecular sciences · 2023Article
- Review
- Effects of Fdft 1 gene silencing and VD3 intervention on lung injury in hypoxia-stressed rats.Genes & genomics · 2022Article
- Nontargeted metabolomics to characterize the effects of isotretinoin on skin metabolism in rabbit with acne.Frontiers in pharmacology · 2022Article
- Article
- Linoleic acid inhibits in vitro function of human and murine dendritic cells, CD4Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Role of Metabolism in Bone Development and Homeostasis.International journal of molecular sciences · 2020Review
- Roles of Farnesyl-Diphosphate Farnesyltransferase 1 in Tumour and Tumour Microenvironments.Cells · 2020Review
- Post-transcriptional air pollution oxidation to the cholesterol biosynthesis pathway promotes pulmonary stress phenotypes.Communications biology · 2020Article
- Fasting inhibits aerobic glycolysis and proliferation in colorectal cancer via the Fdft1-mediated AKT/mTOR/HIF1α pathway suppression.Nature communications · 2020Article
Corrections and comments
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Authors and funding
20 authors at 13 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mendelian disorders of cholesterol biosynthesis typically result in multi-system clinical phenotypes, underlining the importance of cholesterol in embryogenesis and development. FDFT1 encodes for an evolutionarily conserved enzyme, squalene synthase (SS, farnesyl-pyrophosphate farnesyl-transferase 1), which catalyzes the first committed step in cholesterol biosynthesis. We report three individuals with profound developmental delay, brain abnormalities, 2-3 syndactyly of the toes, and facial dysmorphisms, resembling Smith-Lemli-Opitz syndrome, the most common cholesterol biogenesis defect. The metabolite profile in plasma and urine suggested that their defect was at the level of squalene synthase. Whole-exome sequencing was used to identify recessive disease-causing variants in FDFT1. Functional characterization of one variant demonstrated a partial splicing defect and altered promoter and/or enhancer activity, reflecting essential mechanisms for regulating cholesterol biosynthesis/uptake in steady state.
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