Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations. (Q30356957)

20 June 2017

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations. (English)

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20 June 2017

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Janita Thusberg

1

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PubMed ID

16986121

20 June 2017

Mauno Vihinen

series ordinal

2

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20 June 2017

1 December 2006

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20 June 2017

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20 June 2017

27

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20 June 2017

12

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20 June 2017

1230-1243

1 reference

Neutrophil function disorders

20 June 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

Neutrophils and host defense

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

Dipeptidyl peptidase I activates neutrophil-derived serine proteases and regulates the development of acute experimental arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Efficient estimation of emission probabilities in profile hidden Markov models.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Statistical methods for identifying conserved residues in multiple sequence alignment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

D-dimers are degraded by human neutrophil elastase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Families and clans of serine peptidases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The Pfam protein families database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Huntingtin aggregation and toxicity in Huntington's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Degradation of outer membrane protein A in Escherichia coli killing by neutrophil elastase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

ConSeq: the identification of functionally and structurally important residues in protein sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Human leukocyte and porcine pancreatic elastase: X-ray crystal structures, mechanism, substrate specificity, and mechanism-based inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Neutrophil extracellular traps kill bacteria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Protein misfolding and degradation in genetic diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Rationalization of the effects of mutations on peptide and protein aggregation rates.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Cyclic neutropenia: a clinical review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

An algorithm for protein secondary structure prediction based on class prediction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Subcellular localization and heterogeneity of neutral proteases in neutrophilic polymorphonuclear leukocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Protein folding and misfolding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Stabilization centers in proteins: identification, characterization and predictions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

SCide: identification of stabilization centers in proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Servers for sequence-structure relationship analysis and prediction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The pairwise energy content estimated from amino acid composition discriminates between folded and intrinsically unstructured proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Prediction of sequence-dependent and mutational effects on the aggregation of peptides and proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

PoPMuSiC, an algorithm for predicting protein mutant stability changes: application to prion proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Calculation of the total electrostatic energy of a macromolecular system: solvation energies, binding energies, and conformational analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

ConSurf: identification of functional regions in proteins by surface-mapping of phylogenetic information

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Locating the stabilizing residues in (alpha/beta)8 barrel proteins based on hydrophobicity, long-range interactions, and sequence conservation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Carboxyl-terminal prodomain-deleted human leukocyte elastase and cathepsin G are efficiently targeted to granules and enzymatically activated in the rat basophilic/mast cell line RBL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Alpha-synuclein: its biological function and role in neurodegenerative diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Family of G protein alpha chains: amphipathic analysis and predicted structure of functional domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Serine Proteases: Structure and Mechanism of Catalysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

PoPMuSiC, rationally designing point mutations in protein structures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Elucidating the folding problem of alpha-helices: local motifs, long-range electrostatics, ionic-strength dependence and prediction of NMR parameters.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Protein disorder prediction: implications for structural proteomics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

GlobPlot: Exploring protein sequences for globularity and disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

A comparative study of the relationship between protein structure and beta-aggregation in globular and intrinsically disordered proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The penultimate rotamer library

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Structure validation by Calpha geometry: phi,psi and Cbeta deviation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

SRide: a server for identifying stabilizing residues in proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Studies on protein stability with T4 lysozyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The functional importance of disease-associated mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Elucidating the folding problem of helical peptides using empirical parameters.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The versatility of proteolytic enzymes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

AL2CO: calculation of positional conservation in a protein sequence alignment.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Immunodeficiency mutation databases (IDbases).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Probing the alpha-complementing domain of E. coli beta-galactosidase with use of an insertional pentapeptide mutagenesis strategy based on Mu in vitro DNA transposition.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

An unusual specificity in the activation of neutrophil serine proteinase zymogens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Relationship between in vivo activity and in vitro measures of function and stability of a protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Evaluation of structural and evolutionary contributions to deleterious mutation prediction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The FoldX web server: an online force field

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

RankViaContact: ranking and visualization of amino acid contacts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Contributions of the large hydrophobic amino acids to the stability of staphylococcal nuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The folding of an enzyme. II. Substructure of barnase and the contribution of different interactions to protein stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Automated analysis of interatomic contacts in proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Molecular basis of inherited diseases: a structural perspective

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Protein stability and surface electrostatics: a charged relationship.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Prediction of deleterious human alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Structural basis of SH2 domain mutations in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The amino-acid mutational spectrum of human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

The DISOPRED server for the prediction of protein disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Prediction and Functional Analysis of Native Disorder in Proteins from the Three Kingdoms of Life

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Tissue destruction by neutrophils

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

SNPs, protein structure, and disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Neutrophil elastase targets virulence factors of enterobacteria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Human eosinophils lack human leukocyte elastase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Cleavage of fibrinogen by the human neutrophil neutral peptide-generating protease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Visualizing and quantifying molecular goodness-of-fit: small-probe contact dots with explicit hydrogen atoms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Exploring steric constraints on protein mutations using MAGE/PROBE

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

RONN: the bio-basis function neural network technique applied to the detection of natively disordered regions in proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Distance-scaled, finite ideal-gas reference state improves structure-derived potentials of mean force for structure selection and stability prediction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20407

7 January 2021

Identifiers

DOI

10.1002/HUMU.20407

1 reference

release_7gjeolsz4ra4tma3rsuwf2xh7a

20 June 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7gjeolsz4ra4tma3rsuwf2xh7a

24 November 2022

mapped directly with Wikidata item

PubMed ID

16986121

1 reference

PubMed ID

16986121