Steven J Steinberg

Summary

Affiliation: Kennedy Krieger Institute
Country: USA

Publications

  1. ncbi request reprint Peroxisome biogenesis disorders
    Steven J Steinberg
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Biochim Biophys Acta 1763:1733-48. 2006
  2. doi request reprint A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts
    S J Steinberg
    Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    J Inherit Metab Dis 32:109-19. 2009
  3. pmc Human and great ape red blood cells differ in plasmalogen levels and composition
    Ann B Moser
    Hugo W Moser Research Institute at Kennedy Krieger, and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Lipids Health Dis 10:101. 2011
  4. ncbi request reprint The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder
    Shandi Hiebler
    Department of Neurogenetics, Hugo W Moser Research Institute at Kennedy Krieger, 707 N Broadway, Baltimore, MD, USA
    Mol Genet Metab 111:522-32. 2014
  5. pmc Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions
    Paul A Watkins
    Department ofNeurology, Johns Hopkins University School of Medicine, Hugo W Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA
    BMC Physiol 10:19. 2010
  6. pmc Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules
    John J Ladasky
    Department of Biology, Johns Hopkins University, 3400 North Charles Street, Baltimore, MD 21218, USA
    J Immunol 177:6172-81. 2006
  7. pmc Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
    Deyanira Corzo
    Division of Genetics, The Children s Hospital, Boston, Massachusetts, USA
    Am J Hum Genet 70:1520-31. 2002
  8. ncbi request reprint Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy
    Kenneth D R Setchell
    Division of Clinical Mass Spectrometry, Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Gastroenterology 124:217-32. 2003

Collaborators

  • Ann B Moser
  • Jean Bennett
  • Tomohiro Masuda
  • P A Watkins
  • P T Clayton
  • Michael Edidin
  • John J Ely
  • Shandi Hiebler
  • Gerald V Raymond
  • John J Ladasky
  • Kenneth D R Setchell
  • Donald J Zack
  • Phyllis L Faust
  • Nivedita Chowdhury
  • Joseph G Hacia
  • Deyanira Corzo
  • Nancy E Braverman
  • Anita Liu
  • AMANDA LAUER
  • Ning Huang
  • Malini Seth
  • Tsvetelina Pentcheva
  • Fumiyoshi Abe
  • Sarah Boyle
  • Hewang Li
  • James E Heubi
  • Tracy Brewsaugh
  • Robert H Squires
  • Nancy C O'Connell
  • Kevin E Bove
  • Guy Lepage
  • Hugo W Moser
  • Gerald F Cox
  • Heidi Tyson
  • Kisha Johnson
  • Carolyn Zeiss
  • Garry R Cutting
  • William Gibson
  • Robin Casey
  • Grant Mitchell
  • Kirby D Smith

Detail Information

Publications8

  1. ncbi request reprint Peroxisome biogenesis disorders
    Steven J Steinberg
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Biochim Biophys Acta 1763:1733-48. 2006
    ..Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly...
  2. doi request reprint A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts
    S J Steinberg
    Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    J Inherit Metab Dis 32:109-19. 2009
    ..Furthermore, it supports the concept that some tissues are less affected by certain PEX gene defects than brain and liver...
  3. pmc Human and great ape red blood cells differ in plasmalogen levels and composition
    Ann B Moser
    Hugo W Moser Research Institute at Kennedy Krieger, and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Lipids Health Dis 10:101. 2011
    ..Plasmalogen deficiency is also found in the brain tissue of individuals with Alzheimer disease...
  4. ncbi request reprint The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder
    Shandi Hiebler
    Department of Neurogenetics, Hugo W Moser Research Institute at Kennedy Krieger, 707 N Broadway, Baltimore, MD, USA
    Mol Genet Metab 111:522-32. 2014
    ..Thus, the Pex1-G844D mouse provides a powerful model system for testing candidate therapies that address the most common genetic cause of ZSD. In addition, this murine model will enhance studies focused on mechanisms of pathogenesis. ..
  5. pmc Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions
    Paul A Watkins
    Department ofNeurology, Johns Hopkins University School of Medicine, Hugo W Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA
    BMC Physiol 10:19. 2010
    ..Furthermore, phytanic acid is an activator of the PPAR-alpha transcription factor that influences the expression of genes relevant to lipid metabolism...
  6. pmc Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules
    John J Ladasky
    Department of Biology, Johns Hopkins University, 3400 North Charles Street, Baltimore, MD 21218, USA
    J Immunol 177:6172-81. 2006
    ..Overexpression of the Bap31 homolog, Bap29, decreases surface class levels in HeLa, indicating that it does not substitute for Bap31...
  7. pmc Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
    Deyanira Corzo
    Division of Genetics, The Children s Hospital, Boston, Massachusetts, USA
    Am J Hum Genet 70:1520-31. 2002
    ..The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED..
  8. ncbi request reprint Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy
    Kenneth D R Setchell
    Division of Clinical Mass Spectrometry, Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Gastroenterology 124:217-32. 2003
    ....