MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Nat Genet
; 40(10): 1163-5, 2008 Oct.
Article
en En
| MEDLINE
| ID: mdl-18724368
ABSTRACT
Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polaridad Celular
/
Codón sin Sentido
/
Cadenas Pesadas de Miosina
/
Mutación Missense
/
Enterocitos
/
Miosina Tipo V
/
Epitelio
/
Microvellosidades
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Austria