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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

NAD

NSDHL
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, ACID, HAD, EBP, Midline
Papers on NSDHL
Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome.
New
Fischer et al., Beijing, China. In Acta Derm Venereol, Dec 2015
UNASSIGNED: is missing (Short communication).
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
New
Qiu et al., Guangzhou, China. In Pediatr Dermatol, Nov 2015
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is an X-linked autosomal dominant disorder characterized by unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects caused by a mutation in the gene encoding NAD[P]H steroid dehydrogenase-like protein (NSDHL) at Xq28.
Chandipura virus perturbs cholesterol homeostasis leading to neuronal apoptosis.
New
Basu et al., India. In J Neurochem, Oct 2015
In our study of CHPV-infected brain samples, we observed over-expression of genes such as apolipoprotein E, Cyp46a1, Srebf-1 and Nsdhl.
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
New
Astsaturov et al., Philadelphia, United States. In Cell Rep, Oct 2015
Meiosis-activating sterols (MAS) are substrates of SC4MOL and NSDHL in the cholesterol pathway and are important for normal organismal development.
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
New
Martinez et al., Vilnius, Lithuania. In Am J Med Genet A, Jun 2015
The NSDHL gene encodes 3β-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway.
Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
New
Herman et al., Columbus, United States. In Hum Mol Genet, Jun 2015
NSDHL is a 3β-hydroxysterol dehydrogenase that is involved in the removal of two C-4 methyl groups in one of the later steps of cholesterol biosynthesis.
FR171456 is a specific inhibitor of mammalian NSDHL and yeast Erg26p.
Parker et al., Basel, Switzerland. In Nat Commun, 2014
Here we show that FR171456 specifically targets the sterol-4-alpha-carboxylate-3-dehydrogenase (Saccharomyces cerevisiae--Erg26p, Homo sapiens--NSDHL (NAD(P) dependent steroid dehydrogenase-like)), an essential enzyme in the ergosterol/cholesterol biosynthesis pathway.
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
Hafner et al., Regensburg, Germany. In J Cutan Pathol, 2014
Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome.
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
Review
Paller et al., Chicago, United States. In Biochim Biophys Acta, 2014
CHILD syndrome results from loss of function mutations in the NSDHL gene, which leads to inhibition of cholesterol synthesis and accumulation of toxic metabolic intermediates in affected tissues.
Targeting epidermal lipids for treatment of Mendelian disorders of cornification.
Happle et al., Freiburg, Germany. In Orphanet J Rare Dis, 2013
An example is the CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked dominant multisystem MeDOC caused by mutations in the NSDHL (NAD(P)H steroid dehydrogenase-like protein) gene, which is involved in the distal cholesterol biosynthetic pathway.
Expression profile of NSDHL in human peripheral tissues.
GeneRIF
Hendson et al., Vancouver, Canada. In J Mol Histol, 2012
human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes.
NSDHL-Related Disorders
Review
Boerkoel et al., Seattle, United States. In Unknown Journal, 2011
CLINICAL CHARACTERISTICS: The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked dominant condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked recessive disorder that affects males.
Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.
Review
Rozman et al., Slovenia. In Drug Metab Rev, 2011
The X-linked mutations in Nsdhl and Ebp are embryonic lethal in male mice, while heterozygous females are also affected.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
GeneRIF
Boerkoel et al., Vancouver, Canada. In Am J Hum Genet, 2011
found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.
GeneRIF
Happle et al., Athens, Greece. In J Eur Acad Dermatol Venereol, 2010
The missense mutation of the NSDHL gene is detected in CHILD syndrome.
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
GeneRIF
Herman et al., Columbus, United States. In Hum Mol Genet, 2010
Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl.
Functional analysis of cholesterol biosynthesis by RNA interference.
GeneRIF
Adamski et al., Germany. In J Steroid Biochem Mol Biol, 2007
NAD(P) dependent steroid dehydrogenase-like (NSDHL)-shRNA sequences were designed and tested for their effectiveness.
The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome.
Review
Has et al., Münster, Germany. In Eur J Dermatol, 2000
It is of note that very recent investigations by the Marburg group have disclosed that the CHILD syndrome is likewise caused by a similar metabolic defect, namely a deficiency of a 3b-hydroxysteroid dehydrogenase (NSDHL).
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
Review
Grzeschik et al., Marburg an der Lahn, Germany. In Am J Med Genet, 2000
We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 (NAD(P)H steroid dehydrogenase-like protein) encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway.
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
Impact
Herman et al., Columbus, United States. In Nat Genet, 1999
Here we report mutations in one of these genes, Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein, in two independent Bpa and three independent Str alleles.
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