Structural features of the ATP-binding cassette (ABC) transporter ABCA3

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

In this review we reported and discussed the structural features of the ATP-Binding Cassette (ABC) transporter ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model of this important transporter. In fact, a model of ABCA3 is still lacking and no crystallographic structures (of the transporter or of its orthologues) are available. With the advent of next generation sequencing, many disease-causing mutations have been discovered and many more will be found in the future. In the last few years, ABCA3 mutations have been reported to have important pediatric implications. Thus, clinicians need a reliable structure to locate relevant mutations of this transporter and make genotype/phenotype correlations of patients affected by ABCA3-related diseases. In conclusion, we strongly believe that the model preliminarily generated by these novel bioinformatics tools could be the starting point to obtain more refined models of the ABCA3 transporter.

Original languageEnglish
Pages (from-to)19631-19644
Number of pages14
JournalInternational Journal of Molecular Sciences
Volume16
Issue number8
DOIs
Publication statusPublished - Aug 19 2015

Fingerprint

transporter
ATP-Binding Cassette Transporters
adenosine triphosphate
Adenosinetriphosphate
Computational Biology
mutations
Mutation
Bioinformatics
Structural Models
Genetic Association Studies
Pediatrics
Research Personnel
phenotype
sequencing

Keywords

  • ABC transporters
  • ABCA3
  • Protein model

ASJC Scopus subject areas

  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Spectroscopy
  • Inorganic Chemistry
  • Catalysis
  • Molecular Biology
  • Computer Science Applications

Cite this

Structural features of the ATP-binding cassette (ABC) transporter ABCA3. / Paolini, Alessandro; Baldassarre, Antonella; Del Gaudio, Ilaria; Masotti, Andrea.

In: International Journal of Molecular Sciences, Vol. 16, No. 8, 19.08.2015, p. 19631-19644.

Research output: Contribution to journalArticle

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