Current therapeutic strategies for P23H RHO-linked RP.
Adv Exp Med Biol
; 801: 471-6, 2014.
Article
em En
| MEDLINE
| ID: mdl-24664733
ABSTRACT
The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO). Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. Herein, we review current thinking of this topic.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rodopsina
/
Retinose Pigmentar
/
Deficiências na Proteostase
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Ano de publicação:
2014
Tipo de documento:
Article