RGD Reference Report - Parkin and synphilin-1 isoform expression changes in Lewy body diseases. - Rat Genome Database

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Parkin and synphilin-1 isoform expression changes in Lewy body diseases.

Authors: Humbert, J  Beyer, K  Carrato, C  Mate, JL  Ferrer, I  Ariza, A 
Citation: Humbert J, etal., Neurobiol Dis. 2007 Jun;26(3):681-7. Epub 2007 Mar 27.
RGD ID: 10412737
Pubmed: PMID:17467279   (View Abstract at PubMed)
DOI: DOI:10.1016/j.nbd.2007.03.007   (Journal Full-text)

Alternative splicing gives rise to at least seven parkin and eight synphilin-1 isoforms. Since both parkin and synphilin-1 have been involved in Lewy body (LB) formation, we decided to explore whether their isoforms are differentially expressed in LB diseases. With this aim, we studied relative mRNA expression levels of parkin and synphilin-1 isoforms in the frontal cortices of patients with dementia with LBs, the LB variant of Alzheimer's disease and Parkinson's disease and compared the findings with those obtained from Alzheimer's disease patients and control individuals. Duplex real-time PCR reactions, with beta-actin as internal standard, were carried out in a LightCycler. mRNA expression levels of parkin and synphilin-1 isoforms were seen to be specifically altered in each of the LB diseases studied. These findings suggest that parkin and synphilin-1 isoform expression changes play a significant role in the pathogenesis of LB diseases.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Lewy body dementia  IEP 10412737 RGD 
Lewy body dementia  ISOPRKN (Homo sapiens)10412737; 10412737 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Prkn  (parkin RBR E3 ubiquitin protein ligase)

Genes (Mus musculus)
Prkn  (parkin RBR E3 ubiquitin protein ligase)

Genes (Homo sapiens)
PRKN  (parkin RBR E3 ubiquitin protein ligase)


Additional Information