Search Results - "Sarkissian, C. N"

What we know that could influence future treatment of phenylketonuria by Sarkissian, C. N, Gámez, A, Scriver, C. R

“…Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism that can result in impaired postnatal…”
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A Different Approach to Treatment of Phenylketonuria: Phenylalanine Degradation with Recombinant Phenylalanine Ammonia Lyase by Sarkissian, Christineh N., Shao, Zhongqi, Blain, Francoise, Peevers, Rosalie, Su, Hongsheng, Heft, Robert, Thomas M. S. Chang, Scriver, Charles R.

“…Phenylketonuria (PKU), with its associated hyperphenylalaninemia (HPA) and mental retardation, is a classic genetic disease and the first to have an identified…”
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Measurement of Phenyllactate, Phenylacetate, and Phenylpyruvate by Negative Ion Chemical Ionization–Gas Chromatography/Mass Spectrometry in Brain of Mouse Genetic Models of Phenylketonuria and Non-Phenylketonuria Hyperphenylalaninemia by Sarkissian, Christineh N., Scriver, Charles R., Mamer, Orval A.

“…Phenylketonuria (PKU) (OMIM 261600) is the first Mendelian disease to have an identified chemical cause of impaired cognitive development. The disease is…”
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A Heteroallelic Mutant Mouse Model: A New Orthologue for Human Hyperphenylalaninemia by Sarkissian, Christineh N., Boulais, Danielle M., McDonald, J.David, Scriver, Charles R.

“…Hyperphenylalaninemias (HPA) are Mendelian disorders resulting from deficiencies in the conversion of phenylalanine to tyrosine. The vast majority are…”
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Structural and Biochemical Characterization of the Therapeutic Anabaena variabilis Phenylalanine Ammonia Lyase by Wang, Lin, Gamez, Alejandra, Archer, Holly, Abola, Enrique E., Sarkissian, Christineh N., Fitzpatrick, Paul, Wendt, Dan, Zhang, Yanhong, Vellard, Michel, Bliesath, Joshua, Bell, Sean M., Lemontt, Jeffrey F., Scriver, Charles R., Stevens, Raymond C.

“…We have recently observed promising success in a mouse model for treating the metabolic disorder phenylketonuria with phenylalanine ammonia lyase (PAL) from…”
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Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now? by Sarkissian, Christineh N., Gámez, Alejandra

“…Phenylketonuria (PKU) is an autosomal recessive genetic disorder in which mutations in the phenylalanine-4-hydroxylase ( PAH) gene result in an inactive enzyme…”
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Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria by Wang, Lin, Gamez, Alejandra, Sarkissian, Christineh N., Straub, Mary, Patch, Marianne G., Han, Gye Won, Striepeke, Steve, Fitzpatrick, Paul, Scriver, Charles R., Stevens, Raymond C.

“…Structure-based protein engineering coupled with chemical modifications (e.g., pegylation) is a powerful combination to significantly improve the development…”
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Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria by Gámez, Alejandra, Sarkissian, Christineh N, Wang, Lin, Kim, Woomi, Straub, Mary, Patch, Marianne G, Chen, Lin, Striepeke, Steve, Fitzpatrick, Paul, Lemontt, Jeffrey F, O'Neill, Charles, Scriver, Charles R, Stevens, Raymond C

“…Phenylketonuria (PKU) is a metabolic disorder due primarily to mutations in the PAH gene that impair both phenylalanine hydroxylase activity and disposal of…”
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The phenylketonuria mouse model: a meeting review by David McDonald, J, Andriolo, Maria, Calı̀, Francesco, Mirisola, Mario, Puglisi-Allegra, Stefano, Romano, Valentino, Sarkissian, Christineh N, Smith, Carolyn B

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