Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacting with chromatin and lamins, and an enzymatic function as a sterol reductase. Heterozygous LBR mutations cause nuclear hyposegmentation in neutrophils (Pelger anomaly), while homozygous mutations cau...

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Detalhes bibliográficos
Main Authors: Clayton, Peter, Fischer, Björn, Mann, Anuska, Mansour, Sahar, Rossier, Eva, Veen, Markus, Lang, Christine, Baasanjav, Sevjidmaa, Kieslich, Moritz, Brossuleit, Katja, Gravemann, Sophia, Schnipper, Nele, Karbasyian, Mohsen, Demuth, Ilja, Zwerger, Monika, Vaya, Amparo, Utermann, Gerd, Mundlos, Stefan, Stricker, Sigmar, Sperling, Karl, Hoffmann, Katrin
Formato: Artigo
Idioma:Inglês
Publicado em: Landes Bioscience 2010
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3027044/
https://ncbi.nlm.nih.gov/pubmed/21327084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/nucl.1.4.12435
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