TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
J Recept Signal Transduct Res
; 32(3): 150-5, 2012 Jun.
Article
em En
| MEDLINE
| ID: mdl-22414221
ABSTRACT
To assess the effect of Loeys-Dietz syndrome (LDS) mutations affecting TGFΒR1 a selection of seven disease-associated amino acid substitutions were introduced into wild type TGFßR1 and constitutively active TGFßR1(T204D). Receptor function was tested by co-transfection with a luciferase reporter or EGFP-tagged SMAD2 in HEK293 cells. All of the mutations were found to be inactivating for canonical TGF-ß signaling. Differences in residual activity were not found to correlate with disease subtype. In co-transfection experiments with equal amounts wild-type receptor, the LDS mutations were found to confer a modest dominant negative effect. These results are discussed in relation to LDS and the related Marfan syndrome.
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1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Serina-Treonina Quinases
/
Receptores de Fatores de Crescimento Transformadores beta
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Mutação
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article