• Publications
  • Influence
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
TLDR
The molecular basis of mucopolysaccharidosis IX is determined, and two candidate genes tandemly distributed on human chromosome 3p21.3 and encoding proteins with homology to a sperm protein with hyaluronidase activity are analyzed, showing markedly different tissue expression patterns, consistent with differing roles in HA metabolism.
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
TLDR
A single homoallelic nucleotide substitution is discovered as the putative cause of the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites, and Carrier screening for this lethal mutation in this high-risk population is now feasible.
Crystallographic Evidence for Substrate-assisted Catalysis in a Bacterial β-Hexosaminidase*
TLDR
A complex between the cyclic intermediate analogueN-acetylglucosamine-thiazoline and β-hexosaminidase is solved and refined, providing decisive structural evidence for substrate-assisted catalysis and the formation of a covalent, Cyclic intermediate in family 20 β- hexosaminationidases.
Biology of hyaluronan: Insights from genetic disorders of hyaluronan metabolism.
TLDR
Based on mutant animal models, a partial deficiency of HAS2 or HYAL2 might be compatible with survival in humans, while complete deficiencies of HAS1, HAS3, and HYAL3 may yet be recognized.
Nucleotide sequence of katG, encoding catalase HPI of Escherichia coli
TLDR
The gene katG, encoding catalase HPI of Escherichia coli, was sequenced, predicting a 726-amino-acid protein, which shows no homology to other catalases.
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
TLDR
The increased specificity and predictive value of the DNA-based test make it a useful adjunct to the diagnostic tests currently used to screen for carriers of Tay-Sachs disease.
Identification of proteins that interact with a protein of interest: Applications of the yeast two-hybrid system
TLDR
A step by step procedure to screen for proteins that interact with a protein of interest using the two-hybrid system is described to allow investigators to identify proteins and their encoding cDNAs that have a biologically significant interaction with yourprotein of interest.
...
1
2
3
4
5
...