Home |  English version |  Mappa |  Commenti |  Sondaggio |  Staff |  Contattaci Cerca nel sito  
Istituto di scienza dell'alimentazione

Torna all'elenco Contributi in rivista anno 2018

Contributo in rivista

Tipo: Articolo in rivista

Titolo: The evolution of a Web resource: The Galactosemia Proteins Database 2.0.

Anno di pubblicazione: 2018

Formato: Elettronico

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

Affiliazioni autori: CNR-ISA, National Research Council, Institute of Food Science, Avellino, Italy.

Autori CNR:


Lingua: inglese

Abstract: Galactosemia Proteins Database 2.0 is a Web-accessible resource collecting information about the structural and functional effects of the known variations associated to the three different enzymes of the Leloir pathway encoded by the genes GALT, GALE, and GALK1 and involved in the different forms of the genetic disease globally called "galactosemia." It represents an evolution of two available online resources we previously developed, with new data deriving from new structures, new analysis tools, and new interfaces and filters in order to improve the quality and quantity of information available for different categories of users. We propose this new resource both as a landmark for the entire world community of galactosemia and as a model for the development of similar tools for other proteins object of variations and involved in human diseases.

Lingua abstract: inglese


Human mutation Wiley-Liss, Inc.,
Paese di pubblicazione: Stati Uniti d'America
Lingua: inglese
ISSN: 1098-1004

DOI: 10.1002/humu.23346

Stato della pubblicazione: Published version

Indicizzato da: ISI Web of Science (WOS) [28961353]

Parole chiave:

  • galactosemia
  • database

Strutture CNR:


Torna indietro Richiedi modifiche Invia per email Stampa
Home Il CNR  |  I servizi News |   Eventi | Istituti |  Focus