Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Christineh N, Sarkissian"'
Publikováno v:
Molecular Genetics and Metabolism. 137:388-398
Charles Scriver is a towering figure in the medical genetics community. At 92 he can look back upon a remarkable career that established the field of biochemical genetics, a subsection of medical genetics that is translating the developments in basic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb41fed68ca679505c54bb3f5a98952
https://doi.org/10.1016/j.ymgme.2022.11.001
https://doi.org/10.1016/j.ymgme.2022.11.001
Publikováno v:
Journal of Inherited Metabolic Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::800da35043d45fb52c29ac3c78805441
https://doi.org/10.1002/jimd.12624
https://doi.org/10.1002/jimd.12624
Autor:
Beat Thöny, Hiu Man Grisch-Chan, Ming Ying, Gabriella Allegri, Cary O. Harding, Shelley R. Winn, Tanja Scherer, Aurora Martinez, Christineh N. Sarkissian, Anahita Rassi
Hyperphenylalaninemia (HPA) caused by hepatic phenylalanine hydroxylase (PAH) deficiency has severe consequences on brain monoamine neurotransmitter metabolism. We have studied monoamine neurotransmitter status and the effect of tetrahydrobiopterin (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f92edb62e1953d35156c94acf0c61b4
https://www.zora.uzh.ch/id/eprint/165254/
https://www.zora.uzh.ch/id/eprint/165254/
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria
Publikováno v:
Molecular genetics and metabolism. 124(4)
Phenylketonuria (PKU) is a genetic inborn error in metabolism that impacts many people globally, with profound individual and societal consequences when left untreated. The journey of phenylalanine ammonia lyase (PAL) from plant enzyme to enzyme subs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c750b8e3424363c4533c46b85aa13719
https://pubmed.ncbi.nlm.nih.gov/29941359
https://pubmed.ncbi.nlm.nih.gov/29941359
Autor:
Raymond C. Stevens, Alejandra Gámez, Tse Siang Kang, Charles R. Scriver, Christineh N. Sarkissian
Publikováno v:
Molecular Genetics and Metabolism. 104:249-254
Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism causing impaired postnatal cognitive development in the absence of treatment. We used the Pahenu2/enu2 PKU mouse model to study oral enzy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f55d25c6ccbace53a5b83e57bf74fefd
https://doi.org/10.1016/j.ymgme.2011.06.016
https://doi.org/10.1016/j.ymgme.2011.06.016
Autor:
Tse Siang Kang, Charles R. Scriver, Raymond C. Stevens, Christineh N. Sarkissian, Alejandra Gámez, Lin Wang
Publikováno v:
Molecular Genetics and Metabolism. 99:4-9
Phenylalanine ammonia lyase (PAL) has long been recognized as a potential enzyme replacement therapeutic for treatment of phenylketonuria. However, various strategies for the oral delivery of PAL have been complicated by the low intestinal pH, aggres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8eae26817bf4a2ccfbb611efab3ca8
https://doi.org/10.1016/j.ymgme.2009.09.002
https://doi.org/10.1016/j.ymgme.2009.09.002
Autor:
Jeffrey F. Lemontt, Laurie Tsuruda, Raymond C. Stevens, Christineh N. Sarkissian, Bin Zhao, Amy Lambert, Carroll Henschell, Marilyse Charbonneau, Charles R. Scriver, Paul F. Fitzpatrick, Michael Vellard, Sean M. Bell, Alejandra Gámez, Lin Wang
Publikováno v:
Proceedings of the National Academy of Sciences. 105:20894-20899
Phenylketonuria (PKU) is a metabolic disorder, in which loss of phenylalanine hydroxylase activity results in neurotoxic levels of phenylalanine. We used the Pah enu2/enu2 PKU mouse model in short- and long-term studies of enzyme substitution therapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57db3d63a1f1f25817739af87e5dfebd
https://doi.org/10.1073/pnas.0808421105
https://doi.org/10.1073/pnas.0808421105
Publikováno v:
Journal of Mass Spectrometry. 42:811-817
We describe a sensitive, simple and convenient stable isotope dilution assay developed to study endogenous metabolism of administered stable isotope-labeled phenylalanine (Phe) in phenylketonuric (PKU) mice treated experimentally with phenylalanine a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcc8408afa19bdf8f84d2045598c4af5
https://doi.org/10.1002/jms.1218
https://doi.org/10.1002/jms.1218
Publikováno v:
Molecular Genetics and Metabolism. 86:22-26
Phenylketonuria (PKU) is an autosomal recessive genetic disorder in which mutations in the phenylalanine-4-hydroxylase (PAH) gene result in an inactive enzyme (PAH, EC 1.14.16.1). The effect is an inability to metabolize phenylalanine (Phe), translat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ed3ae4dc94fce5c831b278bc42fe328
https://doi.org/10.1016/j.ymgme.2005.06.016
https://doi.org/10.1016/j.ymgme.2005.06.016
Autor:
Christineh N. Sarkissian, Lynne Prevost, Mélarnie Hurtubise, Paula J. Waters, Shannon Ryan, David Konecki, Raymond C. Stevens, Manyphong Phommarinh, Charles R. Scriver, David Mcdonald, Heidi Erlandsen
Publikováno v:
Human Mutation. 21:333-344
PAHdb, a legacy of and resource in genetics, is a relational locus-specific database (http://www.pahdb.mcgill.ca). It records and annotates both pathogenic alleles (n = 439, putative disease-causing) and benign alleles (n = 41, putative untranslated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7283470337e164e6e08aeae99925a60b
https://doi.org/10.1002/humu.10200
https://doi.org/10.1002/humu.10200