NSDHL

Summary

Gene Symbol: NSDHL
Description: NAD(P) dependent steroid dehydrogenase-like
Alias: H105E3, SDR31E1, XAP104, sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating, protein H105e3, short chain dehydrogenase/reductase family 31E, member 1
Species: human

Top Publications

  1. ncbi [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome]
    Feng Jing
    Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 33:878-882. 2016
  2. doi Cumulus cell gene expression associated with pre-ovulatory acquisition of developmental competence in bovine oocytes
    A Bunel
    Centre de Recherche en Biologie de la Reproduction, Faculté des sciences de l agriculture et de l alimentation, Departement des Sciences Animales, Universite Laval, Quebec, QC G1V 0A6, Canada
    Reprod Fertil Dev 26:855-65. 2014
  3. pmc Human lysophosphatidylcholine acyltransferases 1 and 2 are located in lipid droplets where they catalyze the formation of phosphatidylcholine
    Christine Moessinger
    Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, D 01307 Dresden, Germany
    J Biol Chem 286:21330-9. 2011
  4. doi The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome
    Mark A Seeger
    Departments of Dermatology and Pediatrics, The Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Biochim Biophys Acta 1841:345-52. 2014
  5. pmc Targeting epidermal lipids for treatment of Mendelian disorders of cornification
    Dimitra Kiritsi
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    Orphanet J Rare Dis 9:33. 2014
  6. doi CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis
    Susanne Gantner
    Department of Dermatology, University of Regensburg, Regensburg, Germany
    J Cutan Pathol 41:787-90. 2014
  7. pmc Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development
    David Cunningham
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA
    Hum Mol Genet 24:2808-25. 2015
  8. doi A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
    Egle Preiksaitiene
    Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
    Am J Med Genet A 167:1342-8. 2015
  9. doi Chandipura virus perturbs cholesterol homeostasis leading to neuronal apoptosis
    Sourish Ghosh
    National Brain Research Centre, Manesar, Haryana, India
    J Neurochem 135:368-80. 2015
  10. pmc Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR
    Linara Gabitova
    Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Tatarstan 420000, Russia
    Cell Rep 12:1927-38. 2015

Scientific Experts

  • Cristina Has
  • Tao Chen
  • Grétel Oudesluijs
  • Masato Ohashi
  • Per Arne Svensson
  • H Traupe
  • Mario Bittar
  • David Cunningham
  • N S Heiss
  • Teresa Wierzba-Bobrowicz
  • Igor Astsaturov
  • Gail E Herman
  • Gail Herman
  • Erica A Golemis
  • Linara Gabitova
  • Richard I Kelley
  • Lisa E Kratz
  • Keith W McLarren
  • K H Grzeschik
  • R Happle
  • Hugo Caldas
  • D Bornholdt
  • Tim N Beck
  • Feng Jing
  • Sourish Ghosh
  • Stephen B Helliwell
  • Xiang bin Mi
  • A Konig
  • Egle Preiksaitiene
  • Ilya G Serebriiskii
  • Ranee Mehra
  • Dimitra Kiritsi
  • Mark A Seeger
  • Dong Hua Yang
  • A Bunel
  • Kathy Q Cai
  • Susanne Gantner
  • Andrey Gorin
  • Diana Restifo
  • Fenglei Jiang
  • Ting Xue
  • Anna Sukhanova
  • David J Bautz
  • Daniel Lohmann
  • Marie Morimoto
  • B H Maher
  • Johanna Spandl
  • Christoph Thiele
  • Bilal Malik
  • Christine Moessinger
  • Cornelius F Boerkoel
  • Christèle du Souich
  • Glenda Hendson
  • Simon Horvat
  • G P Avgerinou
  • Katharine M Irvine
  • Nicolas Parent
  • Rudolf Happle
  • Bogna Schmidt-Sidor
  • Yunfeng Zhou
  • Christina Guggenberger
  • Karl Heinz Grzeschik
  • C A Kim
  • L Leveleki
  • Shveta Mehra
  • A M Mallon
  • G E Herman
  • Yasuyuki Fujimoto
  • Cara Dubyk
  • Barbara A Burtness
  • John A Ridge
  • Rachel Georgopoulos
  • David Sarcu
  • Elizabeth A Handorf
  • Marsha E Lucas
  • Lipin Liang
  • Dan Yang
  • Marybeth Hummel
  • Miriam N Lango
  • Kaoru Murata
  • Elena I Shagisultanova
  • Silvestre Oltra
  • Ireos Filipuzzi
  • Kunal Manocha
  • Juan Zhang
  • Trixie Wagner
  • Sven Schuierer
  • N Rao Movva
  • Miao Xuan Luo
  • Philipp Krastel

Detail Information

Publications57

  1. ncbi [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome]
    Feng Jing
    Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 33:878-882. 2016
    ..syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28...
  2. doi Cumulus cell gene expression associated with pre-ovulatory acquisition of developmental competence in bovine oocytes
    A Bunel
    Centre de Recherche en Biologie de la Reproduction, Faculté des sciences de l agriculture et de l alimentation, Departement des Sciences Animales, Universite Laval, Quebec, QC G1V 0A6, Canada
    Reprod Fertil Dev 26:855-65. 2014
    ..Interestingly, CYP11A1 and NSDHL gene expression profiles reflected the blastocyst rate...
  3. pmc Human lysophosphatidylcholine acyltransferases 1 and 2 are located in lipid droplets where they catalyze the formation of phosphatidylcholine
    Christine Moessinger
    Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, D 01307 Dresden, Germany
    J Biol Chem 286:21330-9. 2011
    ..This suggests that LPCAT1 and -2 have, in addition to their known function in specialized cells, a ubiquitous role in LD-associated lipid metabolism...
  4. doi The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome
    Mark A Seeger
    Departments of Dermatology and Pediatrics, The Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Biochim Biophys Acta 1841:345-52. 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 ..
  5. pmc Targeting epidermal lipids for treatment of Mendelian disorders of cornification
    Dimitra Kiritsi
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    Orphanet J Rare Dis 9:33. 2014
    ..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 ..
  6. doi CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis
    Susanne Gantner
    Department of Dermatology, University of Regensburg, Regensburg, Germany
    J Cutan Pathol 41:787-90. 2014
    ..Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome...
  7. pmc Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development
    David Cunningham
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA
    Hum Mol Genet 24:2808-25. 2015
    b>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...
  8. doi A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
    Egle Preiksaitiene
    Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
    Am J Med Genet A 167:1342-8. 2015
    The NSDHL gene encodes 3β-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831)...
  9. doi Chandipura virus perturbs cholesterol homeostasis leading to neuronal apoptosis
    Sourish Ghosh
    National Brain Research Centre, Manesar, Haryana, India
    J Neurochem 135:368-80. 2015
    ..CHPV-infected brain samples, we observed over-expression of genes such as apolipoprotein E, Cyp46a1, Srebf-1 and Nsdhl. This backs up the hypothesis that CHPV replication demands cholesterol that is supplied by apolipoprotein E ..
  10. pmc Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR
    Linara Gabitova
    Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Tatarstan 420000, Russia
    Cell Rep 12:1927-38. 2015
    Meiosis-activating sterols (MAS) are substrates of SC4MOL and NSDHL in the cholesterol pathway and are important for normal organismal development...
  11. pmc FR171456 is a specific inhibitor of mammalian NSDHL and yeast Erg26p
    Stephen B Helliwell
    Novartis Institutes for BioMedical Research, Novartis Campus, Basel, CH 4056, Switzerland
    Nat Commun 6:8613. 2015
    ..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 ..
  12. doi CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation
    Xiang bin Mi
    Department of Dermatology, Zhujiang Hospital of Southern Medical University, Guangzhou, China
    Pediatr Dermatol 32:e277-82. 2015
    ..and ipsilateral limb defects caused by a mutation in the gene encoding NAD[P]H steroid dehydrogenase-like protein (NSDHL) at Xq28...
  13. ncbi EGFR and RB1 as Dual Biomarkers in HPV-Negative Head and Neck Cancer
    Tim N Beck
    Molecular Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania Molecular and Cell Biology and Genetics Program, Drexel University College of Medicine, Philadelphia, Pennsylvania
    Mol Cancer Ther 15:2486-2497. 2016
    ..This work suggests that consideration of the expression of NSDHL and proteins that regulate EGFR recycling in combination with EGFR provides a useful prognostic biomarker set...
  14. ncbi CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene
    C A Kim
    Clinical Unit, Instituto da Criança, USP São Paulo, Sao Paulo, Brazil
    Dermatology 211:155-8. 2005
    ..The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis.
  15. ncbi CHILD syndrome avant la lettre
    Mario Bittar
    Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, 35037 Marburg, Germany
    J Am Acad Dermatol 50:S34-7. 2004
    ..This X-linked dominant, male-lethal trait is caused by mutations in the gene NSDHL that is localized at Xq28 and involved in cholesterol metabolism...
  16. pmc Mutational spectrum of NSDHL in CHILD syndrome
    D Bornholdt
    Department of Human Genetics, Philipp University, Marburg, Germany
    J Med Genet 42:e17. 2005
  17. pmc 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
    David J Bautz
    Department of Genetics, North Carolina State University, Raleigh, North Carolina 27695
    G3 (Bethesda) 3:1819-25. 2013
    ..gene on Chr X for reduced HDL cholesterol levels revealed a novel, I/LnJ-specific nonsynonymous polymorphism in Nsdhl, which codes for sterol-4-alpha-carboxylate 3-dehydrogenase in the cholesterol synthesis pathway...
  18. ncbi A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome
    Kaoru Murata
    J Dermatol Sci 33:67-9. 2003
  19. ncbi Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7
    Yasuyuki Fujimoto
    Department of Molecular Pathology, Faculty of Pharmaceutical Sciences, Teikyo University, 1091 1 Suarashi, Sagamiko, Tsukui, Kanagawa 199 0195, Japan
    Biochim Biophys Acta 1644:47-59. 2004
    ..These results suggest that a specific set of proteins is enriched in the lipid droplet-enriched fraction and that 17betaHSD11 localizes specifically in the fraction...
  20. pmc Monoubiquitination of ancient ubiquitous protein 1 promotes lipid droplet clustering
    Daniel Lohmann
    LiMES Life and Medical Sciences Institute, Rheinische Friedrich Wilhelms Universitat Bonn, Bonn, Germany
    PLoS ONE 8:e72453. 2013
    ..AUP1 mutants with defective droplet targeting fail to induce clustering. Also, another lipid droplet protein, NSDHL, with a fused ubiquitin does not induce clustering...
  21. doi Proteomic analysis of two metabolic proteins with potential to translocate to plasma membrane associated with tumor metastasis development and drug targets
    Ting Xue
    School of Biomedical Engineering and Med X Research Institute, Shanghai Jiao Tong University, Shanghai, China
    J Proteome Res 12:1754-63. 2013
    ..we focused on two metabolic proteins, fatty acid synthase (FASN) and NAD(P)H steroid dehydrogenase-like protein (NSDHL), which were validated by Western blot and immunofluorescence...
  22. pmc Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation
    Anna Sukhanova
    Program in Developmental Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Cancer Discov 3:96-111. 2013
    ..that inactivation of 2 sterol biosynthesis pathway genes, SC4MOL (sterol C4-methyl oxidase-like) and its partner, NSDHL (NADP-dependent steroid dehydrogenase-like), sensitized tumor cells to EGFR inhibitors...
  23. doi Oligomeric amyloid-β peptide affects the expression of genes involved in steroid and lipid metabolism in primary neurons
    Bilal Malik
    KHP Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF, UK
    Neurochem Int 61:321-33. 2012
    ..in the biosynthesis of cholesterol and other steroids and lipids (such as Fdft1, Fdps, Idi1, Ldr, Mvd, Mvk, Nsdhl, Sc4mol), the expression of which was verified by quantitative real-time RT-PCR (qPCR)...
  24. doi Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort
    B H Maher
    Genomics Research Centre, School of Medical Science, Griffith Health Institute, Griffith University, Gold Coast, Queensland 4222, Australia
    Neurogenetics 13:97-101. 2012
    ..of 11 key genes across these regions showed significant association of a three-marker risk haplotype in the NSDHL gene at Xq28 (P00.0082)...
  25. doi Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
    Grétel Oudesluijs
    Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 158:292-7. 2012
    ..Ligation-dependent Probe Amplification (MLPA), whole-genome oligo-array, and molecular analysis of SETBP1 and NSDHL: no abnormalities were found. Mucopolysaccharide urinary excretion was elevated...
  26. pmc Proteomic analysis of enriched lysosomes at early phase of camptothecin-induced apoptosis in human U-937 cells
    Nicolas Parent
    Centre de Recherche, Centre hospitalier de l Université of Montréal CHUM, Hôpital Notre Dame and Institut du Cancer de Montréal, Montreal QC, Canada
    J Proteomics 72:960-73. 2009
    ..These include sterol-4-alpha-carboxylate 3-dehydrogenase (NSDHL), prosaposin (PSAP) and protein kinase C delta (PKC-delta)...
  27. doi Expression profile of NSDHL in human peripheral tissues
    Marie Morimoto
    Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada
    J Mol Histol 43:95-106. 2012
    NAD(P) steroid dehydrogenase-like (NSDHL) is an X-linked gene that encodes a 3β-hydroxysteroid dehydrogenase in the cholesterol biosynthetic pathway...
  28. doi Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments
    Simon Horvat
    Department of Animal Science, University of Ljubljana, Domzale, Slovenia
    Drug Metab Rev 43:69-90. 2011
    ..The X-linked mutations in Nsdhl and Ebp are embryonic lethal in male mice, while heterozygous females are also affected...
  29. pmc Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
    Keith W McLarren
    Department of Medical Genetics, Vancouver, Canada
    Am J Hum Genet 87:905-14. 2010
    ..696_698del [p.Lys232del]) in exon 7 of NAD(P) dependent steroid dehydrogenase-like (NSDHL), a gene that encodes an enzyme in the cholesterol biosynthesis pathway...
  30. ncbi Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
    Marsha E Lucas
    Department of Pediatrics, Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Mol Genet Metab 80:227-33. 2003
    b>Nsdhl is a 3beta-hydroxysterol dehydrogenase that is involved in the removal of C-4 methyl groups in the cholesterol biosynthetic pathway...
  31. ncbi A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28
    M L Levin
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 6:465-77. 1996
    ....
  32. ncbi Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)
    N S Heiss
    Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany
    Genome Res 6:478-91. 1996
    ..Our data facilitated the integration of the transcription map with the physical map around the DXS52 locus. Future analysis of the novel genes as candidates for Barth syndrome (BTHS) and chondrodysplasia punctata (CDPX2) is in progress...
  33. ncbi The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase
    X Y Liu
    Children s Hospital Research Foundation and Department of Pediatrics, The Ohio State University, Columbus 43205, USA
    Nat Genet 22:182-7. 1999
    ..4) and identified several candidate genes in this interval. 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...
  34. ncbi Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome
    A Konig
    Department of Dermatology, Philipp University, Marburg, Germany
    Am J Med Genet 90:339-46. 2000
    ..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 ..
  35. pmc Comparative genome sequence analysis of the Bpa/Str region in mouse and Man
    A M Mallon
    MRC UK Mouse Genome Centre and Mammalian Genetics Unit, Harwell, Oxon, UK
    Genome Res 10:758-75. 2000
    ..Surprisingly, this region showed an extremely high LINE and low SINE content, low G+C content, and yet a relatively high gene density, in contrast to the low gene density usually associated with such regions...
  36. ncbi 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
    H Traupe
    Department of Dermatology, University of Munster, Von Esmarch Str 56, D 48149 Munster, Germany
    Eur J Dermatol 10:425-8. 2000
    ..is likewise caused by a similar metabolic defect, namely a deficiency of a 3b-hydroxysteroid dehydrogenase (NSDHL)...
  37. ncbi The Str mouse as a model for incontinentia pigmenti
    T Perkovic
    Department of Obstetrics and Gynecology, UMC Ljubljana, Slovenia
    Pflugers Arch 440:R53-4. 2000
    ..Recently mutations have been found in the Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein in Str and Bpa mice...
  38. ncbi A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
    Arne König
    Department of Dermatology, Philipp University, Deutchhausstrasse 9, D 35033 Marburg, Germany
    J Am Acad Dermatol 46:594-6. 2002
    ..Recently, we elucidated the underlying gene defect by demonstrating point mutations in NSDHL (NAD[P]H steroid dehydrogenase-like protein) at Xq28 in 6 patients with classic CHILD syndrome...
  39. ncbi Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets
    Masato Ohashi
    Department of Molecular Physiology, National Institute for Physiological Sciences, Okazaki 444 8585, Japan
    J Biol Chem 278:36819-29. 2003
    ..NAD(P)H steroid dehydrogenase-like protein (Nsdhl), a mammalian C-3 sterol dehydrogenase involved in the conversion of lanosterol into cholesterol, was localized on ..
  40. ncbi Copper induces the expression of cholesterogenic genes in human macrophages
    Per Arne Svensson
    Department of Internal Medicine, Research Centre for Endocrinology and Metabolism RCEM, Vita straket 12, Sahlgrenska Academy, Goteborg University, S 41345 Gothenburg, Sweden
    Atherosclerosis 169:71-6. 2003
    ..coenzyme A (HMG CoA) synthase, IPP isomerase, squalene synthase, squalene epoxidase, methyl sterol oxidase, H105e3 mRNA and sterol-C5-desaturase) and low-density lipoprotein receptor (LDL-R), and decreased the expression of CD36 ..
  41. ncbi Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
    Marybeth Hummel
    Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA
    Am J Med Genet A 122:246-51. 2003
    ..Mutations in an essential enzyme of cholesterol biosynthesis, NAD(P)H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided CHILD syndrome and in a sixth patient with ..
  42. ncbi NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets
    Hugo Caldas
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Drive, Columbus, OH 43205, USA
    Hum Mol Genet 12:2981-91. 2003
    b>NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis...
  43. doi CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder
    G P Avgerinou
    1st Department of Dermatology, A Sygros Hospital, University of Athens, Greece
    J Eur Acad Dermatol Venereol 24:733-6. 2010
    ....
  44. ncbi Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
    Hugo Caldas
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, The Ohio State University, Columbus, OH 43205, USA
    Mol Genet Metab 84:48-60. 2005
    b>NSDHL is a 3beta-hydroxysterol dehydrogenase that is involved in the removal of C-4 methyl groups in one of the later steps of cholesterol biosynthesis...
  45. ncbi Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts
    David Cunningham
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Ohio State University, Columbus, OH, USA
    J Lipid Res 46:1150-62. 2005
    ..and limb defects (CHILD) syndrome, results from mutations in the X-linked gene NADH sterol dehydrogenase-like (NSDHL) encoding a sterol dehydrogenase...
  46. ncbi A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma
    Shveta Mehra
    Department of Pathology, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio 44109, USA
    Arch Dermatol 141:1263-7. 2005
    To analyze the 3beta-hydroxysteroid dehydrogenase (NSDHL) gene in verruciform xanthoma (VX) to elucidate its potential role in the histogenesis of this lesion.
  47. ncbi CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions
    Mario Bittar
    Department of Dermatology and Center of Human Genetics, University of Marburg, Marburg, Germany
    Arch Dermatol 142:348-51. 2006
    ..The disorder is caused by mutations in NSDHL (Online Mendelian Inheritance in Man 300275), a gene playing an important role in the cholesterol biosynthetic ..
  48. ncbi Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development
    Fenglei Jiang
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 15:3293-305. 2006
    The X-linked Nsdhl gene encodes a sterol dehydrogenase involved in cholesterol biosynthesis. Mutations in this gene cause the male lethal phenotypes in human CHILD syndrome and bare patches (Bpa) mice...
  49. ncbi Functional analysis of cholesterol biosynthesis by RNA interference
    Christina Guggenberger
    GSF National Research Center for Environment and Health, Institute of Experimental Genetics, Genome Analysis Center, Ingolstaedter Landstr 1, 85764 Neuherberg, Germany
    J Steroid Biochem Mol Biol 104:105-9. 2007
    ..For different genes involved in the cholesterol biosynthesis pathway-NAD(P) dependent steroid dehydrogenase-like (NSDHL), 17-beta hydroxysteroid dehydrogenase type 7 (HSD17B7) and emopamil binding protein (EBP)-shRNA sequences were ..
  50. pmc Expression profiling of hepatic genes associated with lipid metabolism in nephrotic rats
    Yunfeng Zhou
    Department of Physiology and Pathophysiology, Peking University Health Science Center, 38 Xueyuan Rd, Beijing, China
    Am J Physiol Renal Physiol 295:F662-71. 2008
    ..Eight genes involved in cholesterol metabolism, Apo A-I, Acly, Acat, Mpd, Fdps, Ss, Lss, and Nsdhl, were significantly upregulated under NS...
  51. ncbi Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome
    Bogna Schmidt-Sidor
    Department of Neuropathology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warsaw, Poland
    Folia Neuropathol 46:232-7. 2008
    ..CHILD syndrome is caused by mutations in the NSDHL (steroid dehydrogenase-like protein) gene at Xq28, which affects cholesterol biosynthesis...
  52. doi Colony-stimulating factor-1 (CSF-1) delivers a proatherogenic signal to human macrophages
    Katharine M Irvine
    The University of Queensland, Institute for Molecular Bioscience, Brisbane, Queensland, Australia
    J Leukoc Biol 85:278-88. 2009
    ..genes encoding enzymes of the cholesterol biosynthetic pathway (HMGCR, MVD, IDI1, FDPS, SQLE, CYP51A1, EBP, NSDHL, DHCR7, and DHCR24), and expression of ABCG1, encoding a cholesterol efflux transporter, was repressed...
  53. ncbi Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28
    T A Angel
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Mamm Genome 4:171-6. 1993
    ....
  54. pmc Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
    David Cunningham
    The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Mol Genet Metab 98:356-66. 2009
    b>NSDHL (NAD(P)H sterol dehydrogenase-like), is a 3beta-hydroxysterol dehydrogenase thought to function in the demethylation of sterol precursors in one of the later steps of cholesterol biosynthesis...
  55. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David Cunningham
    Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 19:364-73. 2010
    Mutations in the gene encoding the cholesterol biosynthetic enzyme NSDHL are associated with the X-linked male-lethal bare patches (Bpa) mouse...

Research Grants3

  1. Targeting Sterol Gene SC4MOL and EGFR as Synergistic Anti-Cancer Strategy
    Igor Astsaturov; Fiscal Year: 2013
    ..We have determined that SC4MOL and a functionally linked partner protein, NSDHL (NADP-dependent steroid dehydrogenase-like), are negative regulators of trafficking of EGFR and its family members ..
  2. Regulation of EGFR by SC4MOL- and NSDHL-Dependent Trafficking
    Igor Astsaturov; Fiscal Year: 2013
    ..strategy to model an interaction network for evolutionarily conserved orthologs of SC4MOL and its partner protein, NSDHL (NADP-dependent steroid dehydrogenase-like)...
  3. MOLECULAR STUDIES OF X-LINKED CHONDRODYSPLASIA PUNCTATA
    Gail Herman; Fiscal Year: 2009
    ..The mechanisms of disease pathogenesis for any of these disorders remain unknown. Nsdhl is a 3beta-hydroxysteroid dehydrogenase involved in the removal of C-4 methyl groups in one of the later steps of ..