(Q77929889)

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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author name string

P J Waters

1

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

M A Parniak

2

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

B R Akerman

3

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

A O Jones

4

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

C R Scriver

5

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

publication date

1 May 1999

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

Journal of Inherited Metabolic Disease

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

22

1 reference

Europe PubMed Central

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9 December 2019

3

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

208-212

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

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

based on heuristic

inferred from PubMed ID database lookup

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

inferred from PubMed ID database lookup

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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