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Brain & Development|April 12, 2026
Clinical validation of CD16b as a standardized biomarker for inherited GPI deficienciesJunpei Tanigawa, Kae Imanishi, Saori Umeshita, et al.
Molecular Therapy. Advances|May 15, 2026
Optimized AAV vector enables potent therapeutic rescue of inherited glycosylphosphatidylinositol deficiency in miceSaori Umeshita, Kae Imanishi, Shibi Likhite, et al.
The Journal of Biological Chemistry|February 7, 2026
Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficienciesXueying Li, Kae Imanishi, Saori Umeshita, et al.
Molecular Therapy. Methods & Clinical Development|January 16, 2024
AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse modelsYoshiko Murakami, Saori Umeshita, Kae Imanishi, et al.
The Journal of Biological Chemistry|May 16, 2025
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesisTianTian Lu, Saori Umeshita, Kae Imanishi, et al.
American Journal of Medical Genetics. Part A|August 13, 2025
Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case ReportMatheus Vernet Machado Bressan Wilke, Deepak Panwar, Johannes M Verheijen, et al.
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