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Istituto di scienza dell'alimentazione

Torna all'elenco Contributi in rivista anno 2014

Contributo in rivista

Tipo: Articolo in rivista

Titolo: GALT Protein Database: Querying Structural and Functional Features of GALT Enzyme

Anno di pubblicazione: 2014

Formato: Elettronico Cartaceo

Autori: d'Acierno, Antonio; Facchiano, Angelo; Marabotti, Anna

Affiliazioni autori: Consiglio Nazionale delle Ricerche (CNR); University of Salerno

Autori CNR:


Lingua: inglese

Abstract: Knowledge of the impact of variations on protein structure can enhance the comprehension of the mechanisms of genetic diseases related to that protein. Here, we present a new version of GALT Protein Database, a Web-accessible data repository for the storage and interrogation of structural effects of variations of the enzyme galactose-1-phosphate uridylyltransferase (GALT), the impairment of which leads to classic Galactosemia, a rare genetic disease. This new version of this database now contains the models of 201 missense variants of GALT enzyme, including heterozygous variants, and it allows users not only to retrieve information about the missense variations affecting this protein, but also to investigate their impact on substrate binding, intersubunit interactions, stability, and other structural features. In addition, it allows the interactive visualization of the models of variants collected into the database. We have developed additional tools to improve the use of the database by nonspecialized users. This Web-accessible database (http://bioinformatica.isa.cnr.it/GALT/GALT2.0) represents a model of tools potentially suitable for application to other proteins that are involved in human pathologies and that are subjected to genetic variations. (C) 2014 Wiley Periodicals, Inc.

Lingua abstract: inglese medio (1100-1500)

Pagine da: 1060

Pagine a: 1067

Pagine totali: 8


Human mutation Wiley-Liss,
Paese di pubblicazione: Stati Uniti d'America
Lingua: inglese
ISSN: 1059-7794

Numero volume: 35

Numero fascicolo: 9

DOI: 10.1002/humu.22613

Referee: Sė: Internazionale

Indicizzato da:

  • ISI Web of Science (WOS) [000340557900004]
  • PubMed [24990533]

Parole chiave:

  • GALT
  • Classic Galactosemia
  • galactose-1-phosphate uridylyltransferase
  • structural analysis
  • database
  • molecular modelling

Strutture CNR:


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