Article
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.
eLife - 23 Jun 2016
Tsai Pei-Ling, Zhao Chenguang, Turner Elizabeth, Schlieker Christian
Abstract excerpt
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-function mechanism...
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