(Q40661598)

22 September 2017

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. (English)

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22 September 2017

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1

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22 September 2017

Lourdes R Desviat

2

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22 September 2017

Alejandra Gámez

series ordinal

3

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22 September 2017

Magdalena Ugarte

series ordinal

4

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22 September 2017

Belén Pérez

series ordinal

5

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22 September 2017

1 April 2003

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22 September 2017

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22 September 2017

21

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22 September 2017

4

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22 September 2017

370-378

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The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

22 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

The structural basis of phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Structural Insight into the Aromatic Amino Acid Hydroxylases and Their Disease-Related Mutant Forms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Structural basis of autoregulation of phenylalanine hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Understanding human disease mutations through the use of interspecific genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

PAHdb 2003: what a locus-specific knowledgebase can do.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Unfolding the role of chaperones and chaperonins in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

The molecular chaperone Hsc70 assists the in vitro folding of the N-terminal nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

7 January 2021

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

7 January 2021

Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10198

7 January 2021

Identifiers

DOI

10.1002/HUMU.10198

1 reference

22 September 2017

1 reference