Establishing a connection between cilia and Bardet-Biedl Syndrome.

Mykytyn, Kirk; Sheffield, Val C

Mykytyn, Kirk; Sheffield, Val C.

Afiliación

Mykytyn K; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, 43210, USA.

Trends Mol Med ; 10(3): 106-9, 2004 Mar.

Article en En | MEDLINE | ID: mdl-15106604

RESUMEN

Bardet-Biedl Syndrome (BBS) is a gentic disorder with primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BBS protein function. Ansley at al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.

Asunto(s)

Síndrome de Bardet-Biedl/genética; Cilios/fisiología; Síndrome de Bardet-Biedl/etiología; Cilios/metabolismo; Humanos; Síndrome de Kartagener/etiología; Proteínas/genética; Proteínas/metabolismo; Degeneración Retiniana/etiología

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cilios / Síndrome de Bardet-Biedl Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Trends Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2004 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

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