Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.
Neurology
; 63(7): 1293-5, 2004 Oct 12.
Article
em En
| MEDLINE
| ID: mdl-15477556
ABSTRACT
In a tuberous sclerosis patient with a mutation in the TSC1 tumor suppressor gene, no second-hit mutation was found in a resected cortical tuber. Tuber giant cells showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosphorylation of S6. Differential accumulation of hamartin and tuberin in separate cellular compartments of giant cells may prevent formation of the hamartin-tuberin complex, resulting in increased S6 phosphorylation. These data provide an alternative mechanism for tuberogenesis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Esclerose Tuberosa
/
Proteínas Supressoras de Tumor
/
Proteína S6 Ribossômica
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Etiology_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article