Jeanne Hymes
VCU Medical Center
24 Papers
458 Citations
Jeanne Hymes is an academic researcher from VCU Medical Center. The author has contributed to research in topics: Biotinidase & Biotinidase deficiency. The author has an hindex of 18, co-authored 24 publications.
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Papers
Biotinylation of Histones by Human Serum Biotinidase: Assessment of Biotinyl-Transferase Activity in Sera from Normal Individuals and Children with Biotinidase Deficiency
TL;DR: Serum biotinidase has biotinyl-transferase activity in addition to biocytin hydrolase activity, and results indicate that there is a large group of enzyme-deficient children detected by newborn screening who are different biochemically from those who are symptomatic.
174
Human serum biotinidase. cDNA cloning, sequence, and characterization.
Heath Cole,Thomas R. Reynolds,J M Lockyer,Gregory A. Buck,T Denson,J E Spence,Jeanne Hymes,Barry Wolf +7 more
TL;DR: Sequence analysis of a cDNA isolated from a human liver library by plaque hybridization with the largest cDNA probe revealed an open reading frame encoding a protein of 543 amino acid residues, including 41 amino acids of a potential signal peptide, and recognition of the expressed protein encoded by this c DNA by monoclonal antibodies prepared against purified biotinidase demonstrated the identity of this cDNA.
116
Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis
Robert J. Pomponio,Jeanne Hymes,Thomas R. Reynolds,Gregory A. Meyers,Kristen Fleischhauer,Gregory A. Buck,Barry Wolf +6 more
TL;DR: It is apparent that a child who inherits any of these mutations, either in the homozygous state or in combination, can develop the clinical features of the disorder if untreated, as well as no clear genotype/phenotype correlations that would allow for the prediction of the type, severity, or age of onset of symptoms.
Human Biotinidase Isn’t Just for Recycling Biotin
Jeanne Hymes,Barry Wolf +1 more
TL;DR: Specific transfer of biotin to histones by biotinidase provides a possible explanation for why biotin is found in the nucleus and the nature of its role in the regulation of protein transcription.
Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children
TL;DR: It is still recommended that all children with profound biotinidase deficiency be treated, inasmuch as biotin treatment is inexpensive and innocuous, and it is possible that individuals with these mutations either develop mild or no symptoms if left untreated.