ArticleProceedings of the National Academy of Sciences of the United States of America2014
Lack of testicular seipin causes teratozoospermia syndrome in men.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 83 citations in OpenAlex.
- Making a droplet: the adipogenin-seipin complex at work.Nature reviews. Endocrinology · 2026Article
- Metabolic hubs in reproduction: The regulatory network of lipid droplets in gamete and embryo physiology (Review).International journal of molecular medicine · 2026Review
- Seipin expression in hepatocytes impairs the assembly of VLDLs and exacerbates steatohepatitis.Journal of lipid research · 2026Article
- Seipin-Mediated Lipid Droplet Formation in Cardiomyocytes Ameliorates Cardiac Ischemia/Reperfusion Injury.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Seipin as a Putative Protective Factor for Breast Cancer: Evidence from Mendelian Randomization Analysis.International journal of women's health · 2026Article
- UBL7 is indispensable for spermiogenesis through protecting critical factors from excessive degradation by proteasomes.Nature communications · 2025Article
- Seipin governs phosphatidic acid homeostasis at the inner nuclear membrane.Nature communications · 2024Article
- Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans.Disease models & mechanisms · 2024Article
- Review
- Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.Brain and behavior · 2023Article
- Proteasome-Associated Proteins, PA200 and ECPAS, Are Essential for Murine Spermatogenesis.Biomolecules · 2023Article
- Seipin-still a mysterious protein?Frontiers in cell and developmental biology · 2023Review
- Mice deficient in ER protein seipin have reduced adrenal cholesteryl ester lipid droplet formation and utilization.Journal of lipid research · 2022Article
- PI(3)P and DFCP1 regulate the biogenesis of lipid droplets.Molecular biology of the cell · 2022Article
- Reduced phosphatidylcholine synthesis suppresses the embryonic lethality of seipin deficiency.Life metabolism · 2022Article
- Lipodystrophy for the Diabetologist-What to Look For.Current diabetes reports · 2022Review
- Role of Seipin in Human Diseases and Experimental Animal Models.Biomolecules · 2022Review
- Gonadal white adipose tissue is important for gametogenesis in mice through maintenance of local metabolic and immune niches.The Journal of biological chemistry · 2022Article
- Article
- Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.The Journal of clinical endocrinology and metabolism · 2021Article
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Obesity impairs male fertility, providing evidence for a link between adipose tissue and reproductive function; however, potential consequences of adipose tissue paucity on fertility remain unknown. Lack of s.c. fat is a hallmark of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin model BSCL2 with severe lipodystrophy, insulin resistance, and fatty liver but also exhibit male sterility. Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice. Analysis of conditional mouse mutants revealed that adipocyte-specific loss of seipin causes progressive lipodystrophy without affecting fertility, whereas loss of seipin in germ cells results in complete male infertility and teratozoospermia. Spermatids of the human patient and mice devoid of seipin in germ cells are morphologically abnormal with large ectopic lipid droplets and aggregate in dysfunctional clusters. Elevated levels of phosphatidic acid accompanied with an altered ratio of polyunsaturated to monounsaturated and saturated fatty acids in mutant mouse testes indicate impaired phospholipid homeostasis during spermiogenesis. We conclude that testicular but not adipose tissue-derived seipin is essential for male fertility by modulating testicular phospholipid homeostasis.
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