Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein
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منابع مشابه
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 cause prenatal death with skeletal defects and abnormal sterol metabolism (Greenberg dysplasia). It ...
متن کاملPelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism
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 ...
متن کاملThe Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations
Lamin B receptor (LBR) is a polytopic membrane protein residing in the inner nuclear membrane in association with the nuclear lamina. We demonstrate that human LBR is essential for cholesterol synthesis. LBR mutant derivatives implicated in Greenberg skeletal dysplasia or Pelger-Huët anomaly fail to rescue the cholesterol auxotrophy of a LBR-deficient human cell line, consistent with a loss-of-...
متن کاملInherited Disorder: Pelger-Huët Anomaly
Submit Manuscript | http://medcraveonline.com Abbreviations: AML: Acute Myeloid Leukemia; CBC: Complete Blood Count; CML: Chronic Myeloid Leukemia; HIV: Human Immunodeficiency Virus; IFN-g: Interferon Gamma; INM: Inner Nuclear Membrane; LBR: Lamin B Receptor; MDS: Myelodysplastic Syndrome; NE: Nuclear Envelope; ONM: Outer Nuclear Membrane; PHA: Pelger-Huët Anomaly; PHA: PseudoPelger-Huët Anomal...
متن کاملCongenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.
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ژورنال
عنوان ژورنال: Nucleus
سال: 2010
ISSN: 1949-1034,1949-1042
DOI: 10.4161/nucl.1.4.12435