Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, Reilly MM. Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype. Ann Neurol. 2025 Feb;97(2):388-396.
Rabouhi N, Salian S, Benkerroum H, Yoshida T, Uddin H, Nguyen TTM, Fujita T, Hirose S, Kosaki K, Lefebvre M, Bourgon N, Thauvin-Robinet C, Kamalova A, Shakhirova A, Gill H, Lee HK, Menke LA, Kinoshita T, Murakami Y, Campeau PM. Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW. Pediatr Neurol. 2025 Jun;167:89-95.
Lu T, Umeshita, S., Imanishi, K., Wang, Y., Liu, Y.S., Nagae, M., Senoo, Y., Ikeda, K., Fujita, M., Kinoshita, T., Murakami, Y. (2025) ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis. J Biol Chem. 2025 Jun;301(6):110236
Kušíková K, Hsieh TC, Pfeifer M, Fauth C, Murakami Y, Laccone F, Karall D, Bonfig W, Stewart H, Weis D. Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool. Front Genet. 2025 Jul 11;16:1598602.
Higuchi S, Liu Y, Shimizu J, Ono C, Itoh Y, Nakai W, Jin H, Kishida K, Takayama K, Okamoto T, Murakami Y, Kinoshita T, Matsuura Y, Shioda T, Arase H. Evolutionary dynamics of heparan sulfate utilization by SARS-CoV-2. mBio. 2025 Aug 13;16(8):e0130325.
Murakami Y. Biosynthesis of GPI anchored proteins, its deficiencies and treatment. J Hum Genet. 2025 Sep 26.
Watts JL, Likhite S, Murakami Y, Kinoshita T, Meyer K, Stottmann RW. Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system. bioRxiv preprint 2025 Dec 13:2025.12.11.693709.
Bayat A, Borroto MC, Salian S, Zaki MS, Benkerroum H, Elbendary HM, Nguyen TTM, Sadek AA, Carli D, Brusco A, Ferrero GB, Tartaglia M, Hay E, Krey I, A Jamra R, Bartolomaeus T, Knaus A, Gleeson JG, Houlden H, Dominik N, Jackson A, Douzgou Houge S, Banka S, Mohammadi-Asl J, Hajjari M, Azizimalamiri R, Nourbakhsh P, Neissi M, Scardamaglia A, Li D, Kinoshita T, Maroofian R, Murakami Y, Campeau PM. PIGC-related encephalopathy: Lessons learned from 18 new probands. Eur J Hum Genet. 2025 Dec;33(12):1636-1646.
