Ontology highlight
ABSTRACT:
INSTRUMENT(S): LTQ Orbitrap XL, LTQ, LTQ Orbitrap Elite
ORGANISM(S): Homo Sapiens (ncbitaxon:9606)
SUBMITTER: John R Yates
PROVIDER: MSV000079235 | MassIVE | Thu Aug 13 12:50:00 BST 2015
SECONDARY ACCESSION(S): PXD002722
REPOSITORIES: MassIVE
Pankow Sandra S Bamberger Casimir C Calzolari Diego D Martínez-Bartolomé Salvador S Lavallée-Adam Mathieu M Balch William E WE Yates John R JR
Nature 20151130 7583
Deletion of phenylalanine 508 of the cystic fibrosis transmembrane conductance regulator (∆F508 CFTR) is the major cause of cystic fibrosis, one of the most common inherited childhood diseases. The mutated CFTR anion channel is not fully glycosylated and shows minimal activity in bronchial epithelial cells of patients with cystic fibrosis. Low temperature or inhibition of histone deacetylases can partly rescue ∆F508 CFTR cellular processing defects and function. A favourable change of ∆F508 CFTR ...[more]