ABCMdb

PMID: 19896304

Edelman A, Fritsch J, Ollero M
Twenty years after cystic fibrosis gene identification: Where are we and what are we up to?
Pathol Biol (Paris). 2011 Jun;59(3):131-3. Epub 2009 Nov 5., [PubMed]

Sentences

No. Mutations Sentence Comment

58 ABCC7 p.Ile539Thr ABCC7 p.Ile539Thr ABCC7 p.Gly550Glu ABCC7 p.Gly550Glu Moreover, it has been observed by mutagenesis followed by heterologous expression of CFTR, that replacing glycine at position 550 by a glutamic acid residue (G550E) or isoleucine 539 by threonine (I539T), in cis in F508del-NBD1 leads to the delivery of functional F508del-CFTR to the plasma membrane. Login to comment 97 ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Tyr122* Our initial pilot study showed that systemic administration of gentamycin, an antibiotic known to suppress two PTCs found in CFTR (G542X and R553X) when expressed in HeLa cells, improves the clinical status of patients bearing the Y122X mutation. Login to comment