Wilke MVMB, Panwar D, Verheijen JM, Umeshita S, Thurman SA, Nickels K, Darr K, Murakami Y, Klee E, Schimmenti LA, Pinto E Vairo F. Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report. Am J Med Genet A. 2026 Jan;200(1):171-177.
Takamori H, Ueda Y, Matsuoka Y, Fujioka T, Yusa N, Yokoyama K, Makishima H, Murakami Y, Kinoshita T, Imoto S, Miyano S, Kanakura Y, Nishimura JI, Hosen N, Ogawa S, Nannya Y. Lifelong phylogenetic reconstruction of immune-mediated clonal trajectories in paroxysmal nocturnal hemoglobinuria. Leukemia. 2026 Jul 13.
Umeshita S, Imanishi K, Likhite S, Ito M, Takino N, Meyer KC, Kinoshita T, Muramatsu S, Murakami Y. Optimized AAV vector enables potent therapeutic rescue of inherited glycosylphosphatidylinositol deficiency in mice. Mol Ther Adv. 2026 Mar 28;34(2):201724.
Sala-Coromina J, Marcé-Grau A, Masotto B, Codina M, BenJemaa L, Elaribi Y, Martinez-Gallo M, Colobran R, Sanchez-Montañez A, Valenzuela I, Murakami Y, Macaya A. Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM. Ann Clin Transl Neurol. 2026 Mar 4:10.1002/acn3.70341.
Tanigawa J, Imanishi K, Umeshita S, Nabatame S, Kitabatake Y, Kinoshita T, Inoue N, Murakami Y. Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies. Brain Dev. 2026 Jun;48(3):104534.
Li X, Imanishi K, Umeshita S, Senoo Y, Guerrero PA, Silva DV, Ikeda K, Kinoshita T, Murakami Y. Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies. J Biol Chem. 2026 Mar;302(3):111256.
Okawa Y, Tsunogai T, Saijo N, Imagawa E, Takayama J, Kikuchi A, Wada Y, Murakami Y, Oishi K. Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities. Am J Med Genet A. 2026 Jul 21.
