Nsdhl cDNA ORF clone, Mus musculus(house mouse)

A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo.
?i?ecio?lu M, Budak H, Geffers L, ?ankaya M, ?iftci M, Thaller C, Eichele G, K?frevio?lu ??, ?zdemir H
Journal of lipid research56(8)1551-9(2015 Aug)

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
Cunningham D, DeBarber AE, Bir N, Binkley L, Merkens LS, Steiner RD, Herman GE
Human molecular genetics24(10)2808-25(2015 May)

Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice.
Bautz DJ, Broman KW, Threadgill DW
G3 (Bethesda, Md.)3(10)1819-25(2013 Oct)

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Sukhanova A, Gorin A, Serebriiskii IG, Gabitova L, Zheng H, Restifo D, Egleston BL, Cunningham D, Bagnyukova T, Liu H, Nikonova A, Adams GP, Zhou Y, Yang DH, Mehra R, Burtness B, Cai KQ, Klein-Szanto A, Kratz LE, Kelley RI, Weiner LM, Herman GE, Golemis EA, Astsaturov I
Cancer discovery3(1)96-111(2013 Jan)

The role of NSDHL and cholesterol in postnatal central nervous system development is shown.
Title: Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

A novel SNP in Nsdhl suggests that Nsdhl is the causal gene for the HDL level QTL.
Title: Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice.

This work identifies a critical role for SC4MOL and NSDHL in the regulation of EGFR signaling and endocytic trafficking and suggests novel strategies to increase the potency of EGFR antagonists in tumors
Title: Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.

Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl.
Title: Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

While NSDHL-deficient cells in the mosaic Bpa(1H) female are able to survive and differentiate during embryonic development, they are subject to negative selection over the life of the animal.
Title: Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.