Article
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Nucleus (Austin, Tex.) - 1 Jan 2000
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
Abstract excerpt
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 cause prenatal death with skeletal defects and abnormal sterol metabolism (Greenberg dysplasia). It has remained...
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