村上 良子

Publication

• (1)Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Duval R., et al., Blood (2021):blood.2020009810.
• (2)Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kb microdeletion on 15q. Langemeijer S., et al., Blood Adv. (2020): 4(22):5755-576
• (3)Cross-talks of glycosylphosphatidylinositol biosynthesis with glycosphingolipid biosynthesis and ER-associated degradation. Wang, Y., et al., Nat. Commun.(2020):11:860.
• (4)Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. Hoechsmann, B., et al., J. Clin. Invest. (2019):129(12):5123-5136
• (5)Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in the severe cases. Murakami Y. , et al., (2019) Am. J. Hum. Genet., 105:384-394.
• (6)Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. Tanigawa J, et al., Hum Mutat. (2017) Jul;38(7):805-815.