caa a22 4500 463208382 CHVBK 20180405153132.0 cr unu---uuuuu 170326e20071201xx s 000 0 eng 10.1007/s10863-007-9117-7 doi (NATIONALLICENCE)springer-10.1007/s10863-007-9117-7 Building an understanding of cystic fibrosis on the foundation of ABC transporter structures [Elektronische Daten] [Juan Mendoza, Philip Thomas] Cystic fibrosis (CF) is a fatal disease affecting the lungs and digestive system by impairment of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). While over 1000 mutations in CFTR have been associated with CF, the majority of cases are linked to the deletion of phenylalanine 508 (ΔF508). F508 is located in the first nucleotide binding domain (NBD1) of CFTR. This mutation is sufficient to impair the trafficking of CFTR to the plasma membrane and, thus, its function. As an ABC transporter, recent structural data from the family provide a framework on which to consider the effect of the ΔF508 mutation on CFTR. There are fifty-seven known structures of ABC transporters and domains thereof. Only six of these structures are of the intact transporters. In addition, modern bioinformatic tools provide a wealth of sequence and structural information on the family. We will review the structural information from the RCSB structure repository and sequence databases of the ABC transporters. The available structural information was used to construct a model for CFTR based on the ABC transporter homologue, Sav1866, and provide a context for understanding the molecular pathology of Cystic Fibrosis. Springer Science+Business Media, LLC, 2007 ABC transporters nationallicence CFTR nationallicence Cystic fibrosis nationallicence Mendoza Juan Molecular Biophysics Graduate Program, University of Texas Southwestern Medical Center, 6001 Forest Park Lane, 75390-9040, Dallas, TX, USA aut Thomas Philip Molecular Biophysics Graduate Program, University of Texas Southwestern Medical Center, 6001 Forest Park Lane, 75390-9040, Dallas, TX, USA aut Journal of Bioenergetics and Biomembranes Springer US; http://www.springer-ny.com 39/5-6(2007-12-01), 499-505 0145-479X 39:5-6<499 2007 39 10863 https://doi.org/10.1007/s10863-007-9117-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10863-007-9117-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mendoza Juan Molecular Biophysics Graduate Program, University of Texas Southwestern Medical Center, 6001 Forest Park Lane, 75390-9040, Dallas, TX, USA aut NATIONALLICENCE 700 1- Thomas Philip Molecular Biophysics Graduate Program, University of Texas Southwestern Medical Center, 6001 Forest Park Lane, 75390-9040, Dallas, TX, USA aut NATIONALLICENCE 773 0- Journal of Bioenergetics and Biomembranes Springer US; http://www.springer-ny.com 39/5-6(2007-12-01), 499-505 0145-479X 39:5-6<499 2007 39 10863 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer