Steven J Steinberg
Affiliation: Kennedy Krieger Institute
- Peroxisome biogenesis disordersSteven 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...
- A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblastsS 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...
- Human and great ape red blood cells differ in plasmalogen levels and compositionAnn 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...
- The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorderShandi 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. ..
- Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functionsPaul 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...
- Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC moleculesJohn 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...
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disordersDeyanira 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..
- Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapyKenneth 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....