[New therapeutic developments in cystic fibrosis]. / Nouvelles thérapeutiques ciblant le canal chlorure dans la mucoviscidose.
Arch Pediatr
; 23(12S): 12S47-12S53, 2016 Dec.
Article
em Fr
| MEDLINE
| ID: mdl-28231894
ABSTRACT
Since the discovery of chloride secretion by the Cystic Fibrosis Transport regulator CFTR in 1983, and CFTR gene in 1989, knowledge about CFTR synthesis, maturation, intracellular transfer and function has dramatically expanded. These discoveries have led to the distribution of CF mutations into 6 classes with different pathophysiological mechanisms. In this article we will explore the state of art on CFTR synthesis and its chloride secretion function. We will then explore the consequences of the 6 classes of mutations on CFTR protein function and we will describe the new therapeutic developments aiming at correcting these defects.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
/
Regulador de Condutância Transmembrana em Fibrose Cística
/
Fibrose Cística
Idioma:
Fr
Ano de publicação:
2016
Tipo de documento:
Article