ABCMdb

PMID: 20711182

Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina D, Settembre C, Gavina M, Pulze L, Giardino I, Pettoello-Mantovani M, D'Apolito M, Guido S, Masliah E, Spencer B, Quaratino S, Raia V, Ballabio A, Maiuri L
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.
Nat Cell Biol. 2010 Sep;12(9):863-75. Epub 2010 Aug 15., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ReSulTS Human and mouse CF airway epithelia have defective autophagy We cultured human CF airway epithelial IB3-1 or CFBE41o-cells, carrying F508del/W1282X and F508del/F508del mutations, respectively, 1 European Institute for Research in Cystic Fibrosis, San Raffaele Scientific Institute, Milan 20132, Italy. 2 Department of Chemical Engineering, Federico II University, Naples 80125, Italy. 3 Institute of Pediatrics, University of Foggia, Foggia 71100, Italy. 4 Telethon Institute of Genetics and Medicine (TIGEM), Naples 80131, Italy. 5 Department of Pediatrics, Federico II University, Naples 80131, Italy. 6 Department of Laboratory Medicine, University of Foggia, Foggia 71100, Italy. 7 Departments of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0624, USA. Login to comment 918 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* Patients # 1 2 3 4 5 6 7 8 9 10 Sex; Age* F 13, 2 M 14, 3 F 13,4 M 13, 1 F 13, 6 M 13,3 M 29 F 19 M 11 F 24 Age at diagnosis* 0, 6 0, 3 0, 8 2, 3 11, 0 1,5 7,2 2,0 0,4 7,0 Genotype F508del/ F508del F508del/ W1282X F508del/ N1303K F508del/ G542X F508del/ F508del F508del/ F508del F508del/ G542X F508del/ W1282X F508del/ F508del F508del/ W1282X Pancreatic insufficiency Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Chronic respiratory infection (PA) Yes No No No Yes Yes No Yes Yes No Mean FEV1, % predicted 69 78 73 80 69 81 72 64 72 75 # patient's number; *, (years,months) (c) 2010 Macmillan Publishers Limited. Login to comment