F. J. Fitzpatrick

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This paper describes the ongoing development of a design assistant, RaPiD, for use in prosthetic dentistry. RaPiD integrates computed-aided design, knowledge-based systems and databases, employing a logic-based representation as the unifying medium. The user's manipulation of icons representing the developing design is interpreted as a set of transactions(More)
The multi-domain enzyme phenylalanine hydroxylase (PAH) catalyzes the hydroxylation of dietary I-phenylalanine (Phe) to I-tyrosine. Inherited mutations that result in PAH enzyme deficiency are the genetic cause of the autosomal recessive disorder phenylketonuria. Phe is the substrate for the PAH active site, but also an allosteric ligand that increases(More)
Conversion of vitamin B12 (cobalamin, Cbl) into the cofactor forms methyl-Cbl (MeCbl) and adenosyl-Cbl (AdoCbl) is required for the function of two crucial enzymes, mitochondrial methylmalonyl-CoA mutase and cytosolic methionine synthase, respectively. The intracellular proteins MMACHC and MMADHC play important roles in processing and targeting the Cbl(More)
Cystathionine β-synthase (CBS) is a key enzyme in sulfur metabolism, and its inherited deficiency causes homocystinuria. Mammalian CBS is modulated by the binding of S-adenosyl-l-methionine (AdoMet) to its regulatory domain, which activates its catalytic domain. To investigate the underlying mechanism, we performed x-ray crystallography, mutagenesis, and(More)
Dentists frequently fail to provide dental technicians with the design information necessary for the construction of removable partial dentures. The computerization of dental practices and the development of appropriate knowledge-based systems could provide a powerful tool for improving this aspect of dental care. This article describes one such system(More)
Classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase (GALT). Over 300 disease-associated GALT mutations have been reported, with the majority being missense changes, although a better understanding of their underlying molecular effects has been hindered by the lack of structural(More)
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