Publications by authors named "Asumi Agemura"
Background: Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene. There are only few reports that studied clinical status of the obligate carriers of ChAc. Clinical courses with follow-up neuroradiological and neuropsychological evaluations in individuals with ChAc have been rarely reported.
View Article and Find Full Text PDFBrain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C.
Biochem Biophys Res Commun
February 2007
Mutations in vacuolar protein sorting 13A (VPS13A) gene are responsible for chorea-acanthocytosis (ChAc). We previously determined the full-length sequence and exon-intron structure of mouse VPS13A and generated a ChAc model mouse by using the gene targeting technique. In the process, we found diverse 5' and 3' transcript variants.
View Article and Find Full Text PDFArticle Synopsis
- Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder linked to mutations in the VPS13A gene, which produces a protein called chorein.
- In this study, researchers developed an antibody to detect chorein's expression in mice, finding that it was significantly present in organs like the testis, kidney, spleen, and brain, with specific localization patterns in the brain's neuronal regions.
- These findings enhance our understanding of chorein's role in the body and may help in uncovering the underlying mechanisms of ChAc.