ReviewBioscience reports2014
Towards a mechanistic understanding of lipodystrophy and seipin functions.
Review in Bioscience reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Adipogenin-seipin, lipid droplet architecture and the expanding metabolic frontier: Implications for metabolic disorders and cancer.Metabolism open · 2026Article
- Article
- The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report.BMC endocrine disorders · 2022Article
- Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease.International journal of molecular sciences · 2022Review
- SARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy.Diabetology & metabolic syndrome · 2021Article
- Nuclear lipid droplets and nuclear damage in Caenorhabditis elegans.PLoS genetics · 2021Article
- Seipin Deficiency Accelerates Heart Failure Due to Calcium Handling Abnormalities and Endoplasmic Reticulum Stress in Mice.Frontiers in cardiovascular medicine · 2021Article
- Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.Molecular medicine reports · 2020Article
- Seipin Knockout Mice Develop Heart Failure With Preserved Ejection Fraction.JACC. Basic to translational science · 2019Article
- Promethin Is a Conserved Seipin Partner Protein.Cells · 2019Article
- A New Compound Heterozygous Mutation OfDiabetes, metabolic syndrome and obesity : targets and therapy · 2019Article
- SEIPIN Proteins Mediate Lipid Droplet Biogenesis to Promote Pollen Transmission and Reduce Seed Dormancy.Plant physiology · 2018Article
- The collaborative work of droplet assembly.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2017Review
- High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.American journal of medical genetics. Part A · 2017Article
- A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.Nature communications · 2016Article
- Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.Iranian biomedical journal · 2016Article
- Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.Diabetology & metabolic syndrome · 2016Article
- Congenital generalized lipodystrophies--new insights into metabolic dysfunction.Nature reviews. Endocrinology · 2015Review
- Diet rich in Docosahexaenoic Acid/Eicosapentaenoic Acid robustly ameliorates hepatic steatosis and insulin resistance in seipin deficient lipodystrophy mice.Nutrition & metabolism · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CGL (Congenital generalized lipodystrophy) is a genetic disorder characterized by near complete loss of adipose tissue along with increased ectopic fat storage in other organs including liver and muscle. Of the four CGL types, BSCL2 (Berardinelli-Seip Congenital lipodystrophy type 2), resulting from mutations in the BSCL2/seipin gene, exhibits the most severe lipodystrophic phenotype with loss of both metabolic and mechanical adipose depots. The majority of Seipin mutations cause C-terminal truncations, along with a handful of point mutations. Seipin localizes to the ER and is composed of a conserved region including a luminal loop and two transmembrane domains, plus cytosolic N- and C-termini. Animal models deficient in seipin recapitulate the human lipodystrophic phenotype. Cells isolated from seipin knockout mouse models also exhibit impaired adipogenesis. Mechanistically, seipin appears to function as a scaffolding protein to bring together interacting partners essential for lipid metabolism and LD (lipid droplet) formation during adipocyte development. Moreover, cell line and genetic studies indicate that seipin functions in a cell-autonomous manner. Here we will provide a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis. We will also discuss the roles of seipin-interacting partners, including lipin 1 and 14-3-3β, in mediating seipin-dependent regulation of cellular pathways such as actin cytoskeletal remodelling.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.