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http://hdl.handle.net/2445/126806
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DC Field | Value | Language |
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dc.contributor.author | Singh, Inderjit | - |
dc.contributor.author | Pujol Onofre, Aurora | - |
dc.date.accessioned | 2018-12-10T09:00:18Z | - |
dc.date.available | 2018-12-10T09:00:18Z | - |
dc.date.issued | 2010-07 | - |
dc.identifier.uri | http://hdl.handle.net/2445/126806 | - |
dc.description.abstract | X-adrenoleukodystrophy (X-ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder of cerebral ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN). Loss of ABCD1 function results in defective beta oxidation of very long chain fatty acids (VLCFA) resulting in excessive accumulation of VLCFA, the biochemical "hall mark" of X-ALD. At present, the ABCD1-mediated mechanisms that determine the different phenotype of X-ALD are not well understood. The studies reviewed here suggest for a "three-hit hypothesis" for neuropathology of cALD. An improved understanding of the molecular mechanisms associated with these three phases of cALD disease should facilitate the development of effective pharmacological therapeutics for X-ALD. | - |
dc.format.extent | 12 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Wiley | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1111/j.1750-3639.2010.00392.x | - |
dc.relation.ispartof | Brain Pathology, 2010, vol. 20, num. 4, p. 838-844 | - |
dc.relation.uri | https://doi.org/10.1111/j.1750-3639.2010.00392.x | - |
dc.rights | (c) International Society of Neuropathology, 2010 | - |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Malalties neurodegeneratives | - |
dc.subject.classification | Estrès oxidatiu | - |
dc.subject.other | Neurodegenerative Diseases | - |
dc.subject.other | Oxidative stress | - |
dc.title | Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-hit Hypothesis | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.date.updated | 2018-07-24T13:04:48Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 20626745 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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SinghI.pdf | 79.69 kB | Adobe PDF | View/Open |
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