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Biology 575B: Human Biochemical Genetics
Biology 575B: HUMAN BIOCHEMICAL GENETICS
Topic: Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency
http://www.medgen.mcgill.ca/CharlesScriverOnlineBio575B.php
Outline (with links to updates)
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Scriver Charles R.
The PAH gene, phenylketonuria, and a paradigm shift
HUMAN MUTATION 28(9), 831-845, 2007 |
310 145 Bytes |
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Donlon J, Levy H, Scriver CR.
Chapter 77 of The Metabolic and Molecular Bases of Inherited Disease. Online version.
Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency |
2 351 558 Bytes |
| Supplement to Chapter 77 |
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Scriver Charles R.
Homeostasis, Complexity, and Homozygous Phenotypes: The View from Phenylketonuria. |
155 933 Bytes |
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Judith R. Kidd / Kenneth K. Kidd.
The Population Genetics of PAH. |
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Heidi Erlandsen / Raymond C. Stevens.
Structural Studies of Phenylalanine Hydroxylase Enzyme. |
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| Reading |
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A classic paper about PKU |
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Phenylketonuria - a problem in eugenics
L. S. PENROSE
Galton Laboratory, University College
Inaugural Lecture delivered at University College on 21 Jan. 1946 and reprinted with permission from The Lancet, 29 June 1946, pp. 949-953
Ann. Hum. Genet. (1998), 62 193-202 |
188 036 Bytes |
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Other papers |
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Scriver Charles R.
Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008
J Inherit Metab Dis (2008) 31:580-598 |
969 856 Bytes |
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Scriver CR, Waters PJ. Monogenic traits are not simple: Lessons from Phenylketonuria.
Trends Genet 15:267-272, 1999. |
185 755 Bytes |
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Sarkissian CN, Shao Z, Blain F, Peevers R, Hongsheng SU, Heft R, Chang TMS, Scriver CR.
A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase.
Proc Natl Acad Sci USA 96:2339-2344, 1999. |
151 665 Bytes |
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Sarkissian Christineh N,Gamez Alejandra,Wang Lin,Charbonneau Marilyse,Fitzpatrick Paul,Lemontt Jeffrey F.,Zhao Bin,Vellard Michael,Bell Sean M.,Henschell Carroll,Lambert Amy,Tsuruda Laurie,Stevens Raymond C.,and Scriver Charles R..
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria
Proc Natl Acad Sci USA DOI:10.1073/pnas.0808421105 2008. |
1 342 647 Bytes |
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Erlandsen H, Pey AL, Gamez A, Perez B, Desviat LR, Aguado C, Koch R, Surendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martinez A, Stevens RC.
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Proc Natl Acad Sci USA 101: 16903-16908, 2004. |
438 799 Bytes |
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Søren W. Gersting, Kristina F. Kemter, Michael Staudigl, Dunja D. Messing, Marta K. Danecka, Florian B. Lagler, Christian P. Sommerhoff, Adelbert A. Roscher, Ania C. Muntau
Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability p5
The American Journal of Human Genetics 83, 5-17, July 2008 5. |
1 048 052 Bytes |
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Waters PJ, Parniak MA, Akerman BR, Scriver CR.
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active sites, illustrates a paradigm for mechanism and potential modulation of phenotype.
Mol Genet Metab 69:101-110, 2000. |
189 730 Bytes |
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Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR.
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Eur J Hum Genet 6:61-70, 1998. |
498 718 Bytes |
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