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http://hdl.handle.net/10261/252212
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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Sánchez, Marina P. | es_ES |
dc.contributor.author | Gonzalo, Isabel | es_ES |
dc.contributor.author | Ávila, Jesús | es_ES |
dc.contributor.author | García de Yébenes, Justo | es_ES |
dc.date.accessioned | 2021-10-14T06:59:31Z | - |
dc.date.available | 2021-10-14T06:59:31Z | - |
dc.date.issued | 2002 | - |
dc.identifier.citation | Journal of Alzheimer's Disease 4(5): 399-404 (2002) | es_ES |
dc.identifier.issn | 1387-2877 | - |
dc.identifier.uri | http://hdl.handle.net/10261/252212 | - |
dc.description.abstract | Autosomal recessive-juvenile parkinsonism (AR-JP) is one of the most common forms of familial Parkinson's disease (PD) and is related to mutations in the Park-2 gene, encoding for a protein ligase of ubiquitin, parkin. Different mutations located along the parkin gene have been observed in different AR-JP affected families, possibly interfering with the normal function of parkin and the proteasome system. Two cases of patients with AR-JP have been recently described presenting different homo- and heterozygous parkin mutations and limited tau pathology. We report here the case of a patient with clinical and pathological findings compatible with progressive supranuclear palsy (PSP), carrier of a single, heterozygous mutation of the parkin gene, and homozygous for the H1/H1 haplotype in the tau gene. Abnormal tau hyperphosphorylation has been observed in our patient brain samples, suggesting that a partial deficit of parkin, a protein with ubiquitin-ligase function, may trigger tau pathology in individuals with molecular genetic risk factors. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | IOS Press | es_ES |
dc.rights | closedAccess | es_ES |
dc.title | Progressive supranuclear palsy and tau hyperphosphorylation in a patient with a C212Y parkin mutation | es_ES |
dc.type | artículo | es_ES |
dc.identifier.doi | 10.3233/JAD-2002-4506 | - |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.relation.publisherversion | https://doi.org/10.3233/JAD-2002-4506 | es_ES |
dc.relation.csic | Sí | es_ES |
oprm.item.hasRevision | no ko 0 false | * |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
item.openairetype | artículo | - |
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