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dc.contributor.authorSurendran, Sankarde
dc.date.accessioned2008-06-17T14:00:35Z-
dc.date.available2008-06-17T14:00:35Z-
dc.date.issued2005-09-30de
dc.identifier.issn1611-2156de
dc.identifier.urihttp://hdl.handle.net/2003/25655-
dc.identifier.urihttp://dx.doi.org/10.17877/DE290R-8174-
dc.description.abstractCanavan disease (CD) is an autosomal recessive disorder, characterized by spongiform degeneration of the white matter of the brain. Aspartoacylase (ASPA) hydrolyses N-acetylaspartic acid to aspartate and acetate. Mutation of the gene results in enzyme deficiency to result CD. The clinical features seen in the disease are head lag, macrocephaly, hypotonia and mental retardation. More than forty five mutations have been identified in the ASPA gene. Pathophysiological abnormalities seen in CD is likely due to abnormal metabolic levels of NAA, aspartate, acetate, aspartate aminotransferase, glutamate, glutamate dehydrogenase, g-aminobutyric acid, and ketoglutarate dehydrogenase complex. These pathways are useful to understand possible therapeutical targets and pharmacological manipulations in CD.en
dc.language.isoende
dc.relation.ispartofseriesEXCLI Journal ; Vol. 4, 2005en
dc.subjectASPA knockout mouseen
dc.subjectaspartoacylaseen
dc.subjectCanavan diseaseen
dc.subjectneurodegenerationen
dc.subjectspongiform degenerationen
dc.subjecttremor raten
dc.subject.ddc610-
dc.titleCanavan diseaseen
dc.title.alternativeGenomic interaction and metabolic levelsen
dc.typeTextde
dc.type.publicationtypearticlede
dcterms.accessRightsopen access-
eldorado.dnb.zdberstkatid2132560-1-
Appears in Collections:Review Articles

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