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Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism

Elizabeth M. TurnerDepartment of Molecular Biophysics & Biochemistry, Yale University, New Haven, CT, USA

http://orcid.org/0000-0002-4914-9477

Christian SchliekerDepartment of Molecular Biophysics & Biochemistry, Yale University, New Haven, CT, USA;Department of Cell Biology, Yale School of Medicine, New Haven, CT, USACorrespondence[email protected]

http://orcid.org/0000-0002-1237-4267

Article: e1241363 | Received 08 Aug 2016, Accepted 21 Sep 2016, Published online: 14 Oct 2016

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https://doi.org/10.1080/21675511.2016.1241363
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Deepak Anand & Arunima Chaudhuri. (2022) Grease in the Nucleus: Insights into the Dynamic Life of Nuclear Membranes. The Journal of Membrane Biology 256:2, pages 137-145.
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Sapan Borah, Karthigeyan Dhanasekaran & Santosh Kumar. (2022) The LEM-ESCRT toolkit: Repair and maintenance of the nucleus. Frontiers in Cell and Developmental Biology 10.
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Sumit Pawar & Ulrike Kutay. (2021) The Diverse Cellular Functions of Inner Nuclear Membrane Proteins. Cold Spring Harbor Perspectives in Biology 13:9, pages a040477.
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Erin Anderson & David Coman. 2020. Apolipoproteins, Triglycerides and Cholesterol. Apolipoproteins, Triglycerides and Cholesterol.

Shirin Bahmanyar & Christian Schlieker. (2020) Lipid and protein dynamics that shape nuclear envelope identity. Molecular Biology of the Cell 31:13, pages 1315-1323.
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Cene Skubic & Damjana Rozman. 2020. Mammalian Sterols. Mammalian Sterols 1 22 .

Elisa Giorgio, Fabio Sirchia, Martino Bosco, Nara Lygia M. Sobreira, Enrico Grosso, Alessandro Brussino & Alfredo Brusco. (2018) 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 179:2, pages 306-311.
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Pei-Ling Tsai, Chenguang Zhao & Christian Schlieker. 2019. Ubiquitin-dependent Protein Degradation. Ubiquitin-dependent Protein Degradation 47 69 .

Anika Wehrle, Tomasz M. Witkos, Judith C. Schneider, Anselm Hoppmann, Sidney Behringer, Anna Köttgen, Mariet Elting, Jürgen Spranger, Martin Lowe & Ekkehart Lausch. (2018) A common pathomechanism in GMAP-210– and LBR-related diseases. JCI Insight 3:23.
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Durgadas P Kasbekar. (2018) A cross-eyed geneticist’s view. Journal of Biosciences 43:2, pages 235-237.
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C. Patrick Lusk & Megan C. King. 2018. Nuclear Pore Complexes in Genome Organization, Function and Maintenance. Nuclear Pore Complexes in Genome Organization, Function and Maintenance 35 62 .

Eleni Nikolakaki, Ilias Mylonis & Thomas Giannakouros. (2017) Lamin B Receptor: Interplay between Structure, Function and Localization. Cells 6:3, pages 28.
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Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism

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