ArticleRare diseases (Austin, Tex.)2016
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
Article in Rare diseases (Austin, Tex.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Nuclear mechanobiology rules immune cells' functions: from differentiation to cell trafficking and pathogen killing.Nucleus (Austin, Tex.) · 2026Review
- A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia.Nucleus (Austin, Tex.) · 2026Article
- Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.Frontiers in pediatrics · 2025Article
- Grease in the Nucleus: Insights into the Dynamic Life of Nuclear Membranes.The Journal of membrane biology · 2023Review
- Dynamic quality control machinery that operates across compartmental borders mediates the degradation of mammalian nuclear membrane proteins.Cell reports · 2022Article
- The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.Frontiers in cell and developmental biology · 2022Review
- The Diverse Cellular Functions of Inner Nuclear Membrane Proteins.Cold Spring Harbor perspectives in biology · 2021Review
- Lipid and protein dynamics that shape nuclear envelope identity.Molecular biology of the cell · 2020Review
- A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.American journal of medical genetics. Part A · 2019Article
- Methodologies to monitor protein turnover at the inner nuclear membrane.Methods in enzymology · 2019Article
- A common pathomechanism in GMAP-210- and LBR-related diseases.JCI insight · 2018Article
- A cross-eyed geneticist's view I. Making sense of the lamin B receptor, a chimeric protein.Journal of biosciences · 2018Article
- Review
- Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Orphanet journal of rare diseases · 2017Review
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Lamin B Receptor (LBR) is an inner nuclear membrane protein associated with the rare human diseases Pelger-Huët anomaly and Greenberg skeletal dysplasia. A new study has used CRISPR/Cas9-mediated genetic manipulations in a human cell system to determine that the molecular etiology of these previously poorly understood disorders is a defect in cholesterol synthesis due to loss of LBR-associated sterol C14 reductase activity. The study furthermore determined that disease-associated LBR point mutations reduce sterol C14 reductase activity by decreasing the affinity of LBR for the reducing agent NADPH. Moreover, two disease-associated LBR truncation mutants were found to be highly unstable at the protein level and are rapidly turned over by a novel nuclear membrane-based protein quality control pathway. Thus, truncated LBR variants can now be used as model substrates for further investigations of nuclear protein quality control to uncover possible implications for other disease-associated nuclear envelopathies.
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