(Q34136688)

English

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

scientific article published on September 8, 2010

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Europe PubMed Central

PubMed publication ID

31 July 2017

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

based on heuristic

inferred from title

phenylketonuria

1 reference

based on heuristic

inferred from title

orphan drug production

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824346

8 July 2024

Søren W Gersting

2

object named as

Søren W. Gersting

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824346

8 July 2024

author name string

Ania C. Muntau

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20824346

8 July 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20824346

8 July 2024

publication date

8 September 2010

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

full work available at URL

https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-010-9185-4

1 reference

10.1007/S10545-010-9185-4

https://api.crossref.org/works/10.1007/S10545-010-9185-4

8 July 2024

https://onlinelibrary.wiley.com/doi/full-xml/10.1007/s10545-010-9185-4

1 reference

10.1007/S10545-010-9185-4

https://api.crossref.org/works/10.1007/S10545-010-9185-4

8 July 2024

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

649-658

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Edgetic perturbation models of human inherited disorders

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9185-4

21 January 2018

Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mammalian unfolded protein response

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chemokine: receptor structure, interactions, and antagonism

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of phenylalanine intake on phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse models of human phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

2.0A resolution crystal structures of the ternary complexes of human phenylalanine hydroxylase catalytic domain with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine or L-norleucine...

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Probing the role of crystallographically defined/predicted hinge-bending regions in the substrate-induced global conformational transition and catalytic activation of human phenylalanine hydroxylase by single-site mutagenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pharmacologic chaperoning as a strategy to treat Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Therapeutic approaches to protein-misfolding diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cell biology of lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pharmacokinetics of sapropterin in patients with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biological and chemical approaches to diseases of proteostasis deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful treatment of phenylketonuria with tetrahydrobiopterin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease mechanisms and protein structures in fatty acid oxidation defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Local motions in a benchmark of allosteric proteins.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting order of conformational changes during protein conformational transitions using an interpolated elastic network model

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The protective and destructive roles played by molecular chaperones during ERAD (endoplasmic-reticulum-associated degradation).

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense meanderings in sequence space: a biophysical view of protein evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the Regulatory Domain of Phenylalanine Hydroxylase and Response to Tetrahydrobiopterin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contact rearrangements form coupled networks from local motions in allosteric proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of phenylalanine hydroxylase: effect of substitutions at Arg68 and Cys237.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

One step at a time: endoplasmic reticulum-associated degradation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bridging the gap: from protein misfolding to protein misfolding diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The use of N-ethyl-N-nitrosourea to produce mouse models for human phenylketonuria and hyperphenylalaninemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein misfolding and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20824346

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monitoring protein stability in vivo

30

1 reference

10.1007/S10545-010-9185-4

https://api.crossref.org/works/10.1007/S10545-010-9185-4

8 July 2024

Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease

47

1 reference

10.1007/S10545-010-9185-4

https://api.crossref.org/works/10.1007/S10545-010-9185-4

8 July 2024

Identifiers

10.1007/S10545-010-9185-4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Dimensions Publication ID

0 references

release_dxuynup5bzhhhgocbl5xwftq7u

1 reference

https://api.fatcat.wiki/v0/release/dxuynup5bzhhhgocbl5xwftq7u

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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