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Steven Steinberg

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Ronald Thibert; Joe Chiles; Keith Hyland; Steven J Steinberg; Florian Eichler
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
Sebastien Levesque; Pascale Marquis; Charles Morin; Steven J Steinberg; Josee Villeneuve; Wing Yan Yik; Ken Dewar; Simon-Pierre Guay; Joseph G Hacia; Sarn Jiralerspong; Luigi Bouchard; Nancy Braverman
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
Ying Wang; Paul A Watkins; Gail Stetten; Karen Tam; Cicely J Toomer; Lena Bezman; Genila Bibat; Rachel Busin; Lawrence Charnas; Joe T R Clarke; Garry R Cutting; Stacy Hewson; Barbara Karczeski; Ann B Moser; Sakkubai Naidu; Gerald V Raymond; Catherine Reeves; Ann Snowden; Steven J Steinberg
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

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All Publications

2012: Ronald Thibert; Joe Chiles; Keith Hyland; Steven J Steinberg; Florian Eichler
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
JIMD reports 2012;3():79-82.
2012: Sebastien Levesque; Pascale Marquis; Charles Morin; Steven J Steinberg; Josee Villeneuve; Wing Yan Yik; Ken Dewar; Simon-Pierre Guay; Joseph G Hacia; Sarn Jiralerspong; Luigi Bouchard; Nancy Braverman
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
BMC medical genetics 2012;13():72.
2011: Ying Wang; Paul A Watkins; Gail Stetten; Karen Tam; Cicely J Toomer; Lena Bezman; Genila Bibat; Rachel Busin; Lawrence Charnas; Joe T R Clarke; Garry R Cutting; Stacy Hewson; Barbara Karczeski; Ann B Moser; Sakkubai Naidu; Gerald V Raymond; Catherine Reeves; Ann Snowden; Steven J Steinberg
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Molecular genetics and metabolism 2011;104(1-2):160-6.
2011: Patricia K Dranchak; Erminia Di Pietro; Ann Snowden; Nathan Oesch; Nancy E Braverman; Steven J Steinberg; Joseph G Hacia
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Journal of cellular biochemistry 2011;112(5):1250-8.
2011: Ann B Moser; Hugo W Moser; Krishna Ramaswamy; Oliver A Ryder; Kimberly D Siegmund; Steven J Steinberg; Paul A Watkins; John J Ely; D Rick Lee; Joseph G Hacia
Human and great ape red blood cells differ in plasmalogen levels and composition.
Lipids in health and disease 2011;10():101.
2010: Graeme Nimmo; Sarah Monsonego; Maria Descartes; Judith Franklin; Steven J Steinberg; Nancy Braverman
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
American journal of medical genetics. Part A 2010;152A(7):1812-7.
2010: Nancy Braverman; Rui Zhang; Li Chen; Graeme Nimmo; Sarah Scheper; Tammy Tran; Rupsa Chaudhury; Ann B Moser; Steven J Steinberg
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
Molecular genetics and metabolism 2010;99(4):408-16.
2010: Rui Zhang; Li Chen; Sarn Jiralerspong; Ann Snowden; Steven J Steinberg; Nancy Braverman
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(12):5569-74.
2010: Paul A Watkins; Ann B Moser; Cicely B Toomer; Steven J Steinberg; Hugo W Moser; Mazen W Karaman; Krishna Ramaswamy; Kimberly D Siegmund; D Rick Lee; John J Ely; Oliver A Ryder; Joseph G Hacia
Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions.
BMC physiology 2010;10():19.
2009: Walter Hubbard; Ann B Moser; Anita C Liu; Richard O Jones; Steven J Steinberg; Fred Lorey; SUSAN PANNY; Robert F Vogt; Daniela Macaya; Coleman T Turgeon; Silvia Tortorelli; Gerald V Raymond
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Molecular genetics and metabolism 2009;97(3):212-20.
2009: Wing Yan Yik; Steven J Steinberg; Ann B Moser; Hugo W Moser; Joseph G Hacia
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Human mutation 2009;30(3):E467-80.
2009: Nicholas G Cost; Aaron T Ludwig; Duncan T Wilcox; Dinesh Rakheja; Steven J Steinberg; Linda A Baker
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.
Journal of pediatric surgery 2009;44(2):451-4.
2009: Steven J Steinberg; A Snowden; Nancy Braverman; L Chen; Paul A Watkins; P T Clayton; K D R Setchell; James Heubi; Gerald V Raymond; Ann B Moser; Hugo W Moser
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
Journal of inherited metabolic disease 2009;32(1):109-19.
2008: R Bonilla Guerrero; D Gavrilov; M He; Dietrich Matern; M Melan; N Payne; Gerald V Raymond; Piero Rinaldo; Steven J Steinberg; Silvia Tortorelli; Jerry Vockley; L A Wolfe; K M Gibson
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
Journal of inherited metabolic disease 2008;31 Suppl 2():S453-6.
2008: Steven J Steinberg; Richard O Jones; CAROL TIFFANY; Ann B Moser
Investigational methods for peroxisomal disorders.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2008;Chapter 17():Unit 17.6.
2006: Steven J Steinberg; Gabriele Dodt; Gerald V Raymond; Nancy Braverman; Ann B Moser; Hugo W Moser
Peroxisome biogenesis disorders.
Biochimica et biophysica acta 2006;1763(12):1733-48.
2006: John Ladasky; Sarah Boyle; Malini Seth; Hewang Li; Tsvetelina Pentcheva; Fumiyoshi Abe; Steven J Steinberg; Michael Edidin
Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules.
Journal of immunology (Baltimore, Md. : 1950) 2006;177(9):6172-81.
2006: Jeffrey N Bryan; Carolyn J Henry; Susan E Turnquist; Jeff W Tyler; Julius M Liptak; Scott A Rizzo; Gabriella Sfiligoi; Steven J Steinberg; Annette N Smith; Tarraca Jackson
Primary renal neoplasia of dogs.
Journal of veterinary internal medicine / American College of Veterinary Internal Medicine 2006;20(5):1155-60.
2005: Birgit A Neudecker; Robert Stern; Leslie A Mark; Steven J Steinberg
Scleromyxedema-like lesions of patients in renal failure contain hyaluronan: a possible pathophysiological mechanism.
Journal of cutaneous pathology 2005;32(9):612-5.
2005: Steven J Steinberg
The pastoral visit as Pas de deux.
The journal of pastoral care & counseling : JPCC 2005;59(3):285-8.
2005: Steven J Steinberg
Clinical Pastoral Education for Jews an enriching experience.
The journal of pastoral care & counseling : JPCC 2005;59(3):283-4.
2005: Steven J Steinberg; S Katsanis; Ann B Moser; Garry R Cutting
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.
Journal of medical genetics 2005;42(1):38-44.
2004: Steven J Steinberg; Li Chen; Liumei Wei; Ann B Moser; Hugo Moser; Garry R Cutting; Nancy Braverman
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Molecular genetics and metabolism 2004;83(3):252-63.
2003: Zhengtong Pei; Nadia A Oey; Maartje M Zuidervaart; Zhenzhen Jia; Yuanyuan Li; Steven J Steinberg; Kirby D Smith; Paul A Watkins
The acyl-CoA synthetase "bubblegum" (lipidosin): further characterization and role in neuronal fatty acid beta-oxidation..
The Journal of biological chemistry 2003;278(47):47070-8.
2003: Kenneth D R Setchell; James Heubi; Kevin E Bove; Nancy C O'Connell; Tracy Brewsaugh; Steven J Steinberg; Ann B Moser; Robert H Squires
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
Gastroenterology 2003;124(1):217-32.
2002: Stephanie J Mihalik; Steven J Steinberg; Zhengtong Pei; Joseph Park; Do G Kim; Ann Heinzer; Georges Dacremont; Ronald J A Wanders; Dean Cuebas; Kirby D Smith; Paul A Watkins
Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling.
The Journal of biological chemistry 2002;277(27):24771-9.
2002: Deyanira Corzo; William Gibson; Kisha Johnson; Grant Mitchell; Guy LePage; Gerald F Cox; Robin Casey; Carolyn Zeiss; Heidi Tyson; Garry R Cutting; Gerald V Raymond; Kirby D Smith; Paul A Watkins; Ann B Moser; Hugo W Moser; Steven J Steinberg
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
American journal of human genetics 2002;70(6):1520-31.
2000: Steven J Steinberg; J Morgenthaler; Ann Heinzer; Kirby D Smith; Paul A Watkins
Very long-chain acyl-CoA synthetases. Human "bubblegum" represents a new family of proteins capable of activating very long-chain fatty acids.
The Journal of biological chemistry 2000;275(45):35162-9.
2000: Steven J Steinberg; Stephanie J Mihalik; Do G Kim; Dean Cuebas; Paul A Watkins
The human liver-specific homolog of very long-chain acyl-CoA synthetase is cholate:CoA ligase.
The Journal of biological chemistry 2000;275(21):15605-8.
2000: Paul A Watkins; Jyh-Feng Lu; Lelita T Braiterman; Steven J Steinberg; Kirby D Smith
Disruption of a yeast very-long-chain acyl-CoA synthetase gene simulates the cellular phenotype of X-linked adrenoleukodystrophy.
Cell biochemistry and biophysics 2000;32 Spring():333-7.
1999: Steven J Steinberg; Stephan Kemp; Lelita T Braiterman; Paul A Watkins
Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy.
Annals of neurology 1999;46(3):409-12.
1999: Steven J Steinberg; S J Wang; Martina C McGuinness; Paul A Watkins
Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein.
Molecular genetics and metabolism 1999;68(1):32-42.
1999: Steven J Steinberg; N Elçioglu; C M Slade; A Sankaralingam; N Dennis; S N Mohammed; AH Fensom
Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.
American journal of medical genetics 1999;85(5):502-10.
1999: Paul A Watkins; Jonathan Pevsner; Steven J Steinberg
Human very long-chain acyl-CoA synthetase and two human homologs: initial characterization and relationship to fatty acid transport protein.
Prostaglandins, leukotrienes, and essential fatty acids 1999;60(5-6):323-8.
1999: Steven J Steinberg; S J Wang; Do G Kim; Stephanie J Mihalik; Paul A Watkins
Human very-long-chain acyl-CoA synthetase: cloning, topography, and relevance to branched-chain fatty acid metabolism.
Biochemical and biophysical research communications 1999;257(2):615-21.
1999: AH Fensom; A R Grant; Steven J Steinberg; CP Ward; B D Lake; E C Logan; G Hulman
An adult with a non-neuronopathic form of Niemann-Pick C disease.
Journal of inherited metabolic disease 1999;22(1):84-6.
1998: Paul A Watkins; Jyh-Feng Lu; Steven J Steinberg; Stephen J Gould; Kirby D Smith; Lelita T Braiterman
Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations.
The Journal of biological chemistry 1998;273(29):18210-9.
1996: Steven J Steinberg; AH Fensom
Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.
Journal of medical genetics 1996;33(4):295-9.
1996: Steven J Steinberg; D Mondal; AH Fensom
Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification.
Journal of inherited metabolic disease 1996;19(6):769-74.
1995: M L Slawecki; G Dodt; Steven J Steinberg; Ann B Moser; Hugo W Moser; Stephen J Gould
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Journal of cell science 1995;108 ( Pt 5)():1817-29.
1994: Steven J Steinberg; R Cedergren
Structural compensation in atypical mitochondrial tRNAs.
Nature structural biology 1994;1(8):507-10.
1994: C R Kennedy; J T Allen; AH Fensom; Steven J Steinberg; R Wilson
X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.
Journal of neurology, neurosurgery, and psychiatry 1994;57(6):759-61.
1994: Steven J Steinberg; C P Ward; AH Fensom
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
Journal of medical genetics 1994;31(4):317-20.
1994: Steven J Steinberg; AH Fensom; N R Dalton; P A Toseland; C R Kennedy; A P Mowat
Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders.
Journal of inherited metabolic disease 1994;17(3):323-6.