Research Project
Grant-in-Aid for Research Activity Start-up
Adrenoleukodystrophy (ALD) is an X-linked recessive neurodegenerative disorder caused by ABCD1 gene. We searched for modifier factors of various ALD phenotypes using whole exome sequencing. We accumulated eighty one ALD patients' DNA. We analyzed genes localized in the peroxisome where ABCD1 gene product is also localized. We found that there were many cases that have novel variants of genes localized in the peroxisome. Our findings will become the base for the elucidation of modifier factors of various ALD phenotypes.
All 2016
All Journal Article (2 results) Presentation (4 results) (of which Int'l Joint Research: 3 results, Invited: 1 results)
分子精神医学
Volume: 16 Pages: 11-17
Clinical Neuroscience
Volume: 34 Pages: 1091-1093