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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Detaylı Bibliyografya
Asıl Yazarlar: Holleran, W M, Ginns, E I, Menon, G K, Grundmann, J U, Fartasch, M, McKinney, C E, Elias, P M, Sidransky, E
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1994
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC294236/
https://ncbi.nlm.nih.gov/pubmed/8163674
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