ArticlePLoS genetics2020
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Hepatic management of toxic sterols after acute deletion of Cyp51 from cholesterol synthesis.The Journal of biological chemistry · 2026Article
- Identification of Cholesterol in Plaques of Atherosclerotic Using Magnetic Resonance Spectroscopy and 1D U-Net Architecture.Molecules (Basel, Switzerland) · 2026Article
- Novel variants in LSS related hypotrichosis simplex 14.Frontiers in genetics · 2026Article
- Transcriptome and metabolite profiling reveals the mechanism of hepatic lipid metabolism during fasting in chicken.Animal bioscience · 2026Article
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.Human genomics · 2025Review
- Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report.Frontiers in pediatrics · 2025Article
- Eggshell Quality Traits and Transcriptome Gene Screening Between Yunnong and Jingfen Chicken Breeds.Biology · 2024Article
- Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family.Journal of cosmetic dermatology · 2024Article
- Cholesterol-binding motifs in STING that control endoplasmic reticulum retention mediate anti-tumoral activity of cholesterol-lowering compounds.Nature communications · 2024Article
- Clinical and genetic analyses of APMR4 syndrome caused by novel biallelicFrontiers in neuroscience · 2024Article
- Lanosterol Synthase Prevents EMT During Lens Epithelial Fibrosis Via Regulating SREBP1.Investigative ophthalmology & visual science · 2023Article
- Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.Clinical genetics · 2023Review
- Determination of in vitro hepatotoxic potencies of a series of perfluoroalkyl substances (PFASs) based on gene expression changes in HepaRG liver cells.Archives of toxicology · 2023Article
- New approach methodologies: A quantitative in vitro to in vivo extrapolation case study with PFASs.Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association · 2023Article
- Integrated multi-omics and machine learning approach reveals lipid metabolic biomarkers and signaling in age-related meibomian gland dysfunction.Computational and structural biotechnology journal · 2023Article
- Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non-erythrocytic 1 mutation.Pediatric dermatology · 2022Article
- A novel homozygous mutation inFrontiers in physiology · 2022Article
- Novel Photoinduced Squalene Cyclic Peroxide Identified, Detected, and Quantified in Human Skin Surface Lipids.Antioxidants (Basel, Switzerland) · 2021Article
- Defect of LSS Disrupts Lens Development in Cataractogenesis.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
19 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis pathway. Biallelic mutations in LSS have been reported in families with congenital cataracts and, very recently, have been reported in cases of hypotrichosis. However, it remains to be clarified whether these phenotypes are caused by LSS enzymatic deficiencies in each tissue, and disruption of LSS enzymatic activity in vivo has not yet been validated. We identified two patients with novel biallelic LSS mutations who exhibited congenital hypotrichosis and midline anomalies but did not have cataracts. We showed that the blockade of the LSS enzyme reaction occurred in the patients by measuring the (S)-2,3-epoxysqualene/lanosterol ratio in the forehead sebum, which would be a good biomarker for the diagnosis of LSS deficiency. Epidermis-specific Lss knockout mice showed neonatal lethality due to dehydration, indicating that LSS could be involved in skin barrier integrity. Tamoxifen-induced knockout of Lss in the epidermis caused hypotrichosis in adult mice. Lens-specific Lss knockout mice had cataracts. These results confirmed that LSS deficiency causes hypotrichosis and cataracts due to loss-of-function mutations in LSS in each tissue. These mouse models will lead to the elucidation of the pathophysiological mechanisms associated with disrupted LSS and to the development of therapeutic treatments for LSS deficiency.
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