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Energy‐based prediction of amino acid‐nucleotide base recognition
We used HINT, a non‐Newtonian force field encoding both enthalpic and entropic contributions, and Rank, a geometry‐based tool for evaluating hydrogen bond interactions. Expand
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Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy.
BACKGROUND Two mutations in the MYBPC3 gene have been identified in Maine Coon (MCO) and Ragdoll (RD) cats with hypertrophic cardiomyopathy (HCM). OBJECTIVE This study examined the frequency ofExpand
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Detection and molecular characterization of a novel BRAF activated domain mutation in follicular variant of papillary thyroid carcinoma.
To assess the mutational status of BRAF in FVPTC, we directly sequenced the genomic DNA of 30 primary FVPTC samples. BRAF mutations were found in only 4 (13%) tumors. We also identified a previouslyExpand
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Static and dynamic interactions between GALK enzyme and known inhibitors: guidelines to design new drugs for galactosemic patients.
The search for inhibitors of galactokinase (GALK) enzyme is interesting for their possible therapeutic application capable to alleviate symptoms in people with classic galactosemia. SeveralExpand
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Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
BACKGROUND Classic galactosemia refers to galactose-1-phosphate uridyltransferase (GALT) deficiency and is characterized by long-term complications of unknown mechanism and high allelic heterogeneityExpand
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Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate
Classical galactosemia is an autosomal recessive inborn error of metabolism due to mutations of the GALT gene leading to toxic accumulation of galactose and derived metabolites. With the benefit ofExpand
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Simple, intuitive calculations of free energy of binding for protein-ligand complexes. 1. Models without explicit constrained water.
The prediction of the binding affinity between a protein and ligands is one of the most challenging issues for computational biochemistry and drug discovery. While the enthalpic contribution toExpand
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Free energy of ligand binding to protein: evaluation of the contribution of water molecules by computational methods.
One of the more challenging issues in medicinal chemistry is the computation of the free energy of ligand binding to macromolecular targets. This allows for the screening of libraries of chemicalsExpand
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Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and
We have created theoretical models of the three-dimensional dimeric structure of human galactose-1-phosphate uridylyltransferase as well as of homo- and heterodimers carrying the Q188R mutation byExpand
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Modulation of the structural integrity of helix F in apomyoglobin by single amino acid replacements
The conformational features of native and mutant forms of sperm‐whale apomyoglobin (apoMb) at neutral pH were probed by limited proteolysis experiments utilizing up to eight proteases of differentExpand
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