Barry Wolf

Summary

Affiliation: Connecticut Children's Medical Center
Country: USA

Publications

  1. ncbi Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization
    Barry Wolf
    Department of Pediatrics, Connecticut Children s Medical Center, Hartford, CT, USA
    Mol Genet Metab 86:44-50. 2005
  2. ncbi Seventeen novel mutations that cause profound biotinidase deficiency
    B Wolf
    Division of Research, Department of Pediatrics, Connecticut Children s Medical Center, University of Connecticut School of Medicine, 282 Washington Street, Hartford, CT 06106, USA
    Mol Genet Metab 77:108-11. 2002
  3. ncbi Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
    B Wolf
    Department of Pediatrics, Connecticut Children s Medical Center, 282 Washington Street, Hartford, CT 06106, USA
    J Inherit Metab Dis 26:805-9. 2003
  4. ncbi Biotinidase: its role in biotinidase deficiency and biotin metabolism
    Barry Wolf
    Division of Research, Department of Pediatrics, Connecticut Children s Medical Center and University of Connecticut School of Medicine, Hartford, CT 06106, USA
    J Nutr Biochem 16:441-5. 2005
  5. ncbi Biotinidase deficiency: novel mutations and their biochemical and clinical correlates
    Barry Wolf
    Department of Pediatrics, Connecticut Children s Medical Center and the University of Connecticut School of Medicine, Farmington, Connecticut, USA
    Hum Mutat 25:413. 2005
  6. ncbi Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
    Barry Wolf
    Department of Research, Connecticut Children s Medical Center, Hartford 06106, USA
    J Pediatr 140:242-6. 2002
  7. ncbi Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice
    Craig L Brumwell
    Department of Neuroscience, University of Connecticut Health Center, Farmington, 06030 3401, USA
    Hear Res 209:104-21. 2005
  8. ncbi Hearing loss in biotinidase deficiency: genotype-phenotype correlation
    Hatice Serap Kalkanoğlu Sivri
    Hacettepe University, Department of Pediatrics, Nutrition and Metabolism Unit, Ankara, Turkey
    J Pediatr 150:439-42. 2007
  9. ncbi Three dimensional structure of human biotinidase: computer modeling and functional correlations
    Kirit Pindolia
    Department of Medical Genetics, Henry Ford Hospital, and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48202, USA
    Mol Genet Metab 92:13-22. 2007
  10. pmc Biotin dependency due to a defect in biotin transport
    Rebecca Mardach
    Regional Metabolic Service, Kaiser Permanente, Los Angeles, California, USA
    J Clin Invest 109:1617-23. 2002

Collaborators

Detail Information

Publications13

  1. ncbi Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization
    Barry Wolf
    Department of Pediatrics, Connecticut Children s Medical Center, Hartford, CT, USA
    Mol Genet Metab 86:44-50. 2005
    ..Additional immunohistochemical studies of various human tissues at different stages of development are necessary to resolve the ambiguity of subcellular localization of biotinidase...
  2. ncbi Seventeen novel mutations that cause profound biotinidase deficiency
    B Wolf
    Division of Research, Department of Pediatrics, Connecticut Children s Medical Center, University of Connecticut School of Medicine, 282 Washington Street, Hartford, CT 06106, USA
    Mol Genet Metab 77:108-11. 2002
    ..These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined...
  3. ncbi Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
    B Wolf
    Department of Pediatrics, Connecticut Children s Medical Center, 282 Washington Street, Hartford, CT 06106, USA
    J Inherit Metab Dis 26:805-9. 2003
    ..GSD type Ia should be considered in children with markedly elevated serum biotinidase activity...
  4. ncbi Biotinidase: its role in biotinidase deficiency and biotin metabolism
    Barry Wolf
    Division of Research, Department of Pediatrics, Connecticut Children s Medical Center and University of Connecticut School of Medicine, Hartford, CT 06106, USA
    J Nutr Biochem 16:441-5. 2005
    ..Biotinidase may have an important regulatory role(s) in chromatin/DNA function...
  5. ncbi Biotinidase deficiency: novel mutations and their biochemical and clinical correlates
    Barry Wolf
    Department of Pediatrics, Connecticut Children s Medical Center and the University of Connecticut School of Medicine, Farmington, Connecticut, USA
    Hum Mutat 25:413. 2005
    ..These mutations add to the growing list of mutations that are helping to delineate structure/function relationships of the enzyme...
  6. ncbi Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
    Barry Wolf
    Department of Research, Connecticut Children s Medical Center, Hartford 06106, USA
    J Pediatr 140:242-6. 2002
    ..The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss...
  7. ncbi Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice
    Craig L Brumwell
    Department of Neuroscience, University of Connecticut Health Center, Farmington, 06030 3401, USA
    Hear Res 209:104-21. 2005
    ..Besides the pattern of localization of biotinidase, this study provides the first systematic account of each developmental stage in a mammalian auditory system...
  8. ncbi Hearing loss in biotinidase deficiency: genotype-phenotype correlation
    Hatice Serap Kalkanoğlu Sivri
    Hacettepe University, Department of Pediatrics, Nutrition and Metabolism Unit, Ankara, Turkey
    J Pediatr 150:439-42. 2007
    ..Hearing loss appears to be preventable in children with null mutations if treatment is initiated soon after birth...
  9. ncbi Three dimensional structure of human biotinidase: computer modeling and functional correlations
    Kirit Pindolia
    Department of Medical Genetics, Henry Ford Hospital, and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48202, USA
    Mol Genet Metab 92:13-22. 2007
    ....
  10. pmc Biotin dependency due to a defect in biotin transport
    Rebecca Mardach
    Regional Metabolic Service, Kaiser Permanente, Los Angeles, California, USA
    J Clin Invest 109:1617-23. 2002
    ..These results provide evidence for a novel genetic defect in biotin transport. This child is the first known with this defect, which should now be included in the identified causes of biotin dependency...
  11. ncbi Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype
    Barry Wolf
    Eur J Pediatr 161:167-8; author reply 169. 2002
  12. ncbi Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency
    Andrew J Heller
    Department of Otolaryngology, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298, USA
    Hear Res 173:62-8. 2002
    ..These findings suggest that biotinidase and possibly biotin plays an important role in hearing...
  13. ncbi Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase
    Christine M Stanley
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, VA 23298, USA
    Mol Genet Metab 81:300-12. 2004
    ..The function and validation of the mitochondrial species remains to be determined. The 5' splice variants and organelle fractionation studies indicate that biotinidase is directed to the secretory pathway and perhaps mitochondria...