Literature DB >> 10384369

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

P J Waters1, M A Parniak, B R Akerman, A O Jones, C R Scriver.   

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Year:  1999        PMID： 10384369     DOI： 10.1023/a:1005533825980

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  14 in total

1.  Preproparathyroid hormone-related protein, a secreted peptide, is a substrate for the ubiquitin proteolytic system.

Authors:  K Meerovitch; S Wing; D Goltzman
Journal:  J Biol Chem       Date:  1997-03-07       Impact factor: 5.157

2.  PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Authors:  P M Nowacki; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

3.  Recombinant human phenylalanine hydroxylase is a substrate for the ubiquitin-conjugating enzyme system.

Authors:  A P Døskeland; T Flatmark
Journal:  Biochem J       Date:  1996-11-01       Impact factor: 3.857

4.  PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.

Authors:  P M Knappskog; H G Eiken; A Martínez; O Bruland; J Apold; T Flatmark
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

5.  Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.

Authors:  K Lai; S D Langley; P P Dembure; L N Hjelm; L J Elsas
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

Review 6.  In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

Authors:  P J Waters; M A Parniak; P Nowacki; C R Scriver
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

7.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

8.  Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).

Authors:  P J Waters; M A Parniak; A S Hewson; C R Scriver
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

9.  PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.

Authors:  H G Eiken; P M Knappskog; J Apold; T Flatmark
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

10.  Degradation of a mutant secretory protein, alpha1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity.

Authors:  D Qu; J H Teckman; S Omura; D H Perlmutter
Journal:  J Biol Chem       Date:  1996-09-13       Impact factor: 5.157
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  9 in total

Review 1.  Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.

Authors:  N Gregersen; P Bross; M M Jørgensen; T J Corydon; B S Andresen
Journal:  J Inherit Metab Dis       Date:  2000-07       Impact factor: 4.982

Review 2.  The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.

Authors:  N Gregersen; P Bross; B S Andrese; C B Pedersen; T J Corydon; L Bolund
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

3.  Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.

Authors:  Aleš Hnízda; Vojtěch Jurga; Kateřina Raková; Viktor Kožich
Journal:  J Inherit Metab Dis       Date:  2011-11-09       Impact factor: 4.982

Review 4.  Protein misfolding disorders: pathogenesis and intervention.

Authors:  N Gregersen
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

5.  Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.

Authors:  T Gjetting; M Petersen; P Guldberg; F Güttler
Journal:  Am J Hum Genet       Date:  2001-04-20       Impact factor: 11.025

6.  Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Authors:  Christineh N Sarkissian; Alejandra Gamez; Patrick Scott; Jerome Dauvillier; Alejandro Dorenbaum; Charles R Scriver; Raymond C Stevens
Journal:  JIMD Rep       Date:  2011-12-06

Review 7.  After the genome--the phenome?

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

8.  Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

Authors:  Angel L Pey; Francois Stricher; Luis Serrano; Aurora Martinez
Journal:  Am J Hum Genet       Date:  2007-10-02       Impact factor: 11.025

9.  Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.

Authors:  Runa Njålsson; Katarina Carlsson; Vikas Bhansali; Jia-Li Luo; Lennart Nilsson; Rudolf Ladenstein; Mary Anderson; Agne Larsson; Svante Norgren
Journal:  Biochem J       Date:  2004-07-15       Impact factor: 3.857
  9 in total

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