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Istituto di scienza dell'alimentazione

Torna all'elenco Contributi in rivista anno 2010

Contributo in rivista

Tipo: Articolo in rivista

Titolo: Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.

Anno di pubblicazione: 2010

Autori: Facchiano A, Marabotti A.

Affiliazioni autori: Istituto di Scienze dell'Alimentazione, CNR, Avellino

Autori CNR:


Lingua: inglese

Abstract: We describe the prediction of the structural and functional effects of mutations on the enzyme galactose-1-phosphate uridyltransferase related to the genetic disease galactosemia, using a fully computational approach. One hundred and seven single-point mutants were simulated starting from the structural model of the enzyme obtained by homology modeling methods. Several bioinformatics programs were then applied to each resulting mutant protein to analyze the effect of the mutations. The mutations have a direct effect on the active site, or on the dimer assembly and stability, or on the monomer stability. We describe how mutations may exert their effect at a molecular level by altering H-bonds, salt bridges, secondary structure or surface features. The alteration of protein stability, at level of monomer and/or dimer, is the main effect observed. We found an agreement between our results and the functional experimental data available in literature for some mutants. The data and analyses for all the mutants are fully available in the web-accessible database hosted at http://bioinformatica.isa.cnr.it/GALT

Lingua abstract: inglese

Pagine da: 103

Pagine a: 113


Protein engineering, design & selection Oxford University Press,
Paese di pubblicazione: Regno Unito
Lingua: inglese
ISSN: 1741-0126

Numero volume: 23

Indicizzato da:

  • ISI Web of Science (WOS) [WOS:000274286200006]
  • PubMed [20008339]

Altre informazioni: PMID: 20008339

Strutture CNR:


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