Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Paolini, A; Baldassarre, A; Del Gaudio, I; Masotti, A.
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Int J Mol Sci. 2015; 16(8):19631-19644
Doi: 10.3390/ijms160819631
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- Co-Autor*innen der Med Uni Graz
- Del Gaudio Ilaria
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- ATP-Binding Cassette Transporters - chemistry
- Animals -
- Computational Biology - methods
- Crystallography, X-Ray -
- Genetic Association Studies -
- Humans -
- Models, Molecular -
- Molecular Conformation -
- Mutation -
- Patient-Specific Modeling -
- Find related publications in this database (Keywords)
- ABC transporters
- ABCA3
- protein model