Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/25216
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Bahadoran, Philippe | cat |
dc.contributor.author | Aberdam, Edith | cat |
dc.contributor.author | Mantoux, Frédéric | cat |
dc.contributor.author | Buscà, Roser | cat |
dc.contributor.author | Bille, Karine | cat |
dc.contributor.author | Yalman, Nevin | cat |
dc.contributor.author | Saint-Basile, Geneviève de | cat |
dc.contributor.author | Casaroli Marano, Ricardo Pedro | cat |
dc.contributor.author | Ortonne, Jean-Paul | cat |
dc.contributor.author | Ballotti, Robert | cat |
dc.date.accessioned | 2012-05-09T10:10:11Z | - |
dc.date.available | 2012-05-09T10:10:11Z | - |
dc.date.issued | 2001-02-19 | - |
dc.identifier.issn | 0021-9525 | - |
dc.identifier.uri | http://hdl.handle.net/2445/25216 | - |
dc.description.abstract | Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However, it was demonstrated recently that GS can also be caused by a mutation in the Rab27a gene. These observations prompted us to investigate the role of Rab27a in melanosome transport. Using immunofluorescence and immunoelectron microscopy studies, we show that in normal melanocytes Rab27a colocalizes with melanosomes. In melanocytes isolated from a patient with GS, we show an abnormal melanosome distribution and a lack of Rab27a expression. Finally, reexpression of Rab27a in GS melanocytes restored melanosome transport to dendrite tips, leading to a phenotypic reversion of the diseased cells. These results identify Rab27a as a key component of vesicle transport machinery in melanocytes. | eng |
dc.format.extent | 7 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | eng |
dc.publisher | Rockefeller University Press | - |
dc.relation.isformatof | Reproducció digital del document publicat a: http://dx.doi.org/10.1083/jcb.152.4.843 | - |
dc.relation.ispartof | Journal of Cell Biology, 2001, vol. 152, núm. 4, p. 843-850 | - |
dc.relation.uri | http://dx.doi.org/10.1083/jcb.152.4.843 | - |
dc.rights | (c) Rockefeller University Press, 2001 | - |
dc.source | Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques) | - |
dc.subject.classification | Melanoma | cat |
dc.subject.classification | Fisiologia cel·lular | cat |
dc.subject.classification | Fisiologia patològica | cat |
dc.subject.other | Melanoma | eng |
dc.subject.other | Cell physiology | eng |
dc.subject.other | Pathological physiology | eng |
dc.title | Rab27a: A key to melanosome transport in human melanocytes | eng |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 520682 | - |
dc.date.updated | 2012-05-09T07:15:03Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 11266474 | - |
Appears in Collections: | Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
520682.pdf | 450.76 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.