(Q24305605)

English

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein

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scholarly article

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The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein (English)

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author name string

Chandran Ka

1

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Gérald Le Gac

2

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Francois-Yves Dupradeau

3

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Jacques Rochette

4

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Claude Férec

5

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language of work or name

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publication date

September 2005

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117

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5

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467-75

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Contribution of different HFE genotypes to iron overload disease: a pooled analysis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-005-1307-Y

21 January 2018

Molecular dynamics as a tool to detect protein foldability. A mutant of domain B1 of protein G with non-native secondary structure propensities

1 reference

https://api.crossref.org/works/10.1007%2FS00439-005-1307-Y

21 January 2018

The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepcidin--a regulator of intestinal iron absorption and iron recycling by macrophages

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of transferrin-induced endocytosis by wild-type and C282Y-mutant HFE in transfected HeLa cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Critical assessment of methods of protein structure prediction (CASP): round III.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of iron metabolism–related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of haemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The C282Y mutation causing hereditary hemochromatosis does not produce a null allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational methods for generating models of denatured and partially folded proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A surprising simplicity to protein folding.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Principles that govern the folding of protein chains

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential HFE allele expression in hemochromatosis heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SNPs, protein structure, and disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hemochromatosis--a new look at an old disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hemochromatosis protein HFE inhibits iron export from macrophages.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recent advances in understanding haemochromatosis: a transition state

1 reference

https://pubmed.ncbi.nlm.nih.gov/15965644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-005-1307-Y

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