Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.

Hydrolysis of glucosylceramide by beta-glucocerebrosidase results in ceramide, a critical component of the intercellular lamellae that mediate the epidermal permeability barrier. A subset of type 2 Gaucher patients displays ichthyosiform skin abnormalities, as do transgenic Gaucher mice homozygous f...

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Detalles Bibliográficos

Publicado en:	J Clin Invest
Principais autores:	Holleran, W M, Ginns, E I, Menon, G K, Grundmann, J U, Fartasch, M, McKinney, C E, Elias, P M, Sidransky, E
Formato:	Artigo
Idioma:	Inglês
Publicado:	American Society for Clinical Investigation 1994
Assuntos:	Research Article
Acceso en liña:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294236/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8163674/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117160
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