Neurofibromin: a general outlook
dc.contributor.author | Trovo-Marqui, A. B. | |
dc.contributor.author | Tajara, E. H. | |
dc.contributor.institution | Universidade de São Paulo (USP) | |
dc.contributor.institution | Universidade Estadual Paulista (Unesp) | |
dc.date.accessioned | 2014-05-20T15:25:53Z | |
dc.date.available | 2014-05-20T15:25:53Z | |
dc.date.issued | 2006-07-01 | |
dc.description.abstract | Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11.2, and has different biochemical functions, including association to microtubules and participation in several signaling pathways. Alterations in this protein are responsible for a phacomatosis named neurofibromatosis type 1. | en |
dc.description.affiliation | FAMERP Fac Med Sao Jose do Rio Preto, Dept Biol Mol, BR-15090000 Sao Jose do Rio Preto, SP, Brazil | |
dc.description.affiliation | Univ Estadual Paulista, Dept Biol, São Paulo, Brazil | |
dc.description.affiliationUnesp | Univ Estadual Paulista, Dept Biol, São Paulo, Brazil | |
dc.format.extent | 1-13 | |
dc.identifier | http://dx.doi.org/10.1111/j.1399-0004.2006.00639.x | |
dc.identifier.citation | Clinical Genetics. Oxford: Blackwell Publishing, v. 70, n. 1, p. 1-13, 2006. | |
dc.identifier.doi | 10.1111/j.1399-0004.2006.00639.x | |
dc.identifier.issn | 0009-9163 | |
dc.identifier.uri | http://hdl.handle.net/11449/36203 | |
dc.identifier.wos | WOS:000238485700001 | |
dc.language.iso | eng | |
dc.publisher | Blackwell Publishing | |
dc.relation.ispartof | Clinical Genetics | |
dc.relation.ispartofjcr | 3.512 | |
dc.relation.ispartofsjr | 1,522 | |
dc.rights.accessRights | Acesso restrito | |
dc.source | Web of Science | |
dc.subject | cyclic AMP | pt |
dc.subject | mTOR protein | pt |
dc.subject | neurofibromatosis type 1 | pt |
dc.subject | neurofibromin | pt |
dc.subject | p21 ras | pt |
dc.title | Neurofibromin: a general outlook | en |
dc.type | Artigo | |
dcterms.license | http://olabout.wiley.com/WileyCDA/Section/id-406071.html | |
dcterms.rightsHolder | Blackwell Publishing | |
unesp.author.orcid | 0000-0002-2603-2057[2] |
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