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- Title
A Lack of Birbeck Granules in Langerhans Cells Is Associated with a Naturally Occurring Point Mutation in the Human Langerin Gene.
- Authors
Verdijk, Pauline; Dijkman, Remco; Plasmeijer, Elsemieke I.; Mulder, Aat A.; Zoutman, Willem H.; Mieke Mommaas, A.; Tensen, Cornelis P.
- Abstract
A heterozygous mutation in theLangeringene corresponding to position 837 in the Langerin mRNA was identified in a person deficient in Birbeck granules (BG). This mutation results in an amino acid replacement of tryptophan by arginine at position 264 in the carbohydrate recognition domain of the Langerine protein. Expression of mutated Langerin in human fibroblasts induces tubular-like structures that are negative for BG-specific antibodies and do not resemble the characteristic structural features of BG.
- Subjects
LANGERHANS cells; AMINO acids; DENDRITIC cells; MESSENGER RNA; ORGANIC acids; ORGANIC compounds
- Publication
Journal of Investigative Dermatology, 2005, Vol 124, Issue 4, p714
- ISSN
0022-202X
- Publication type
Article
- DOI
10.1111/j.0022-202X.2005.23645.x