Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue

EMBO Molecular Medicine

Volumn 9, Issue 9, 2017, Pages 1224-1243

  Molinski, Steven V ^a,b   Ahmadi, Saumel ^a,b   Ip, Wan ^b   Ouyang, Hong ^b   Villella, Adriana ^c   Miller, John P ^c   Lee, Po Shun ^c   Kulleperuma, Kethika ^a,b   Du, Kai ^b   Di Paola, Michelle ^a,b   Eckford, Paul D W ^b   Laselva, Onofrio ^b   Huan, Ling Jun ^b   Wellhauser, Leigh ^b   Li, Ellen ^b   Ray, Peter N ^d   Pomès, Régis ^a,b   Moraes, Theo J ^b,e   Gonska, Tanja ^b,e   Ratjen, Felix ^d   Bear, Christine E ^a,b   more..

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c Proteostasis Therapeutics   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

amplifier; c.3700 A>G; CFTR; CRISPR Cas9; cystic fibrosis

Indexed keywords

CHLORIDE CHANNEL; CRISPR ASSOCIATED PROTEIN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; IVACAFTOR PLUS LUMACAFTOR; 1,3 BENZODIOXOLE DERIVATIVE; AMINOPHENOL DERIVATIVE; AMINOPYRIDINE DERIVATIVE; LUMACAFTOR, IVACAFTOR DRUG COMBINATION; QUINOLONE DERIVATIVE;

ARTICLE; BIOCHEMISTRY; CFTR GENE; COMPUTER MODEL; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; CRISPR-CAS9 SYSTEM; DRUG EFFICACY; DRUG RESPONSE; GENE EDITING; GENE FUNCTION; GENE MUTATION; HBEC CELL LINE (BRONCHIAL); HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MOLECULAR DYNAMICS; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROCESSING; PROTEIN STRUCTURE; CYSTIC FIBROSIS; DRUG COMBINATION; GENE THERAPY; GENETICS; METABOLISM; MULTIMODALITY CANCER THERAPY; POINT MUTATION;

AMINOPHENOLS; AMINOPYRIDINES; BENZODIOXOLES; COMBINED MODALITY THERAPY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DRUG COMBINATIONS; GENE EDITING; GENETIC THERAPY; HUMANS; POINT MUTATION; QUINOLONES;

EID: 85021638302     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.15252/emmm.201607137     Document Type: Article

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