Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria (Q77929889)

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scientific article published on 01 May 1999

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English	Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria	scientific article published on 01 May 1999

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384369%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384369%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

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P J Waters

1

1 reference

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9 December 2019

M A Parniak

2

1 reference

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9 December 2019

B R Akerman

3

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9 December 2019

A O Jones

4

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9 December 2019

C R Scriver

5

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9 December 2019

publication date

1 May 1999

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9 December 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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9 December 2019

22

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9 December 2019

3

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9 December 2019

208-212

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Europe PubMed Central

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9 December 2019

https://scigraph.springernature.com/pub.10.1023/a:1005533825980

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

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Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

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Lactacystin and clasto-lactacystin beta-lactone modify multiple proteasome beta-subunits and inhibit intracellular protein degradation and major histocompatibility complex class I antigen presentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ubiquitin system

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

1 reference

https://api.crossref.org/works/10.1023%2FA%3A1005533825980

7 January 2021

based on heuristic

inferred from DOI database lookup

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