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総説

  1. Murakami Y.
    Biosynthesis of GPI anchored proteins, its deficiencies and treatment.2025 J Hum Genet.
  2. 村上良子、木下タロウ.
    　知的障害とてんかんを主症状とする新しい疾患—先天性GPI欠損症—脳と発達　2015；47：5−13.
  3. 村上良子、木下タロウ.
    　GPIアンカー異常症. 生体の科学2010；61（2）：148-153.
  4. 村上良子、木下タロウ.
    　発作性夜間血色素尿症を中心としたGPI欠損症の発症機序、血液・腫瘍科　2009；　59（3）：266-270.
  5. 村上良子、木下タロウ.
    　先天性GPI欠損症、分子細胞治療　2008；7(1)：74-75.
  6. 村上良子、木下タロウ.
    　先天性と後天性GPI欠損症､ Annual Review 血液, 2008；50-58.

論文

  1. Okawa Y, Tsunogai T, Saijo N, Imagawa E, Takayama J, Kikuchi A, Wada Y, Murakami Y, Oishi K. 2026 Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities Am J Med Genet A. 2026 doi: 10.1002/ajmg.a.70253..
  2. Umeshita S, Imanishi K, Likhite S, Ito M, Takino N, Meyer KC, Kinoshita T, Muramatsu S, Murakami Y. 2026 Optimized AAV vector enables potent therapeutic rescue of inherited glycosylphosphatidylinositol deficiency in mice Mol Ther Adv. 2026 34(2):201724.
  3. Tanigawa J, Imanishi K, Umeshita S, Nabatame S, Kitabatake Y, Kinoshita T, Inoue N, Murakami Y. 2026 Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies Brain Dev. 2026 48(3):104534.
  4. 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. 2026 Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM Ann Clin Transl Neurol. 2026 10.1002/acn3.70341.
  5. Li X, Imanishi K, Umeshita S, Senoo Y, Guerrero PA, Silva DV, Ikeda K, Kinoshita T, Murakami Y. 2026 Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies J Biol Chem. 2026 302(3):111256.
  6. Watts JL, Likhite S, Murakami Y, Kinoshita T, Meyer K, Stottmann RW. 2025 Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system bioRxiv [Preprint]. 2025.12.11.693709.
  7. 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.2025 PIGC-related encephalopathy: Lessons learned from 18 new probands Eur J Hum Genet. 2025 33(12):1636-1646.
  8. Kušíková K, Hsieh TC, Pfeifer M, Fauth C, Murakami Y, Laccone F, Karall D, Bonfig W, Stewart H, Weis D. 2025 Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool Front Genet. 2025 16:1598602..
  9. 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. 2025 Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW Pediatr Neurol. 2026 25:167:89-95.
  10. 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 301(6):110236.
  11. Sadamitsu K, Yanagi K, Hasegawa Y, Murakami Y, Low SE, Ooshima D, Matsubara Y, Okamoto N, Kaname T, Hirata H 2024 A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures J Hum Genet. 2024 69(11):553-563.
  12. Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K.2024 The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders Brain. 2024 147(8):2775-2790.
  13. Liu, Y.-S.#, Y. Wang#, X. Zhou, L. Zhang, X.-D. Gao, Y. Murakami, M. Fujita and T. Kinoshita. 2023. Accumulated precursors of specific GPI-anchored proteins upregulate GPI biosynthesis with ARV1. J. Cell Biol. 2023 222: e202208159.
  14. Thompson, M. D., X. Li, M. Spencer-Manzon, D. M. Andrade, Y. Murakami, T. Kinoshita and T. Carpenter. 2023. Excluding digenic inheritance of PGAP2 and PGAP3 for Mabry syndrome (OMIM 239300) patient: phenotypic spectrum associated with mutations of PGAP2 in hyperphosphatasia with mental retardation syndrome-3 (HPMRS3). Genes, 2023 14(2), 359.
  15. Ben Ayed, I., O. Jallouli, Y. Murakami, A. Souissi, S. Mallouli, A. Bouzid, F. Kamoun, I. Elloumi, F. Frikha, A. Tlili, S. Weckhuysen, T. Kinoshita, C. Charfi Triki and S. Masmoudi. 2023. Functional analysis of p.Arg507Trp variant of PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region. Front. Neurol., 14:1092887..
  16. Murakami, Y., S. Umeshita1, K. Imanishi1, Y. Yoshioka, A. Ninomiya, T. Sunabori, S. Likhite, M. Koike, K. C. Meyer, and T. Kinoshita. 2023. AAV-based gene therapy ameliorated central nervous system specific GPI defect in mouse models. Mol. Therapy- Methods Clin.2023 32(1):101176.
  17. Ishida, M., Y. Maki, A. Ninomiya, Y. Takada, P. Campeau, T. Kinoshita and Y. Murakami. 2022. Ethanolamine-phosphate on the second mannose is a preferential bridge for some GPI-anchored proteins. EMBO Rep. 2022 e54352.
  18. Hirata, T., A. Kobayashi, T. Furuse, I. Yamada, M. Tamura, H. Tomita, Y. Tokoro, A. Ninomiya, Y. Fujihara, M. Ikawa, Y. Maeda, Y. Murakami, Y. Kizuka* and T. Kinoshita*. 2022. Loss of the N-acetylgalactosamine side chain of the GPI-anchor impairs bone formation and brain functions and accelerates the prion disease pathology. J. Biol. Chem. 2022 298: 101720
  19. Kuwayama, R., K. Suzuki, Y. Yoshioka, M. Ikawa, K. Inoue, M. Fujiwara,T. Kinoshita and Y. Murakami. 2022. Establishment of a mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy with genome editing. Nat. Commun. 2022 13:3107.
  20. Shichinohe, N., D. Kobayashi, A. Izumi, I. Hatanaka, R. Fujita, T. Kinoshita, N. Inoue, N. Hamaue, K. Wada and Y. Murakami. 2022. equential hydrolysis of FAD by ecto-5’ nucleotidase CD73 and alkaline phosphatase is required for uptake of vitamin B2 into cells. J. Biol. Chem. 2022 298:102640.
  21. Wang, Y., A. K. Menon, Y. Maki, Y.-S. Liu, Y. Iwasaki, M. Fujita, P. A. Guerrero, D. Varón Silva, P. H. Seeberger, Y. Murakami and T. Kinoshita. 2022. Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis.Proc. Natl. Acad. Sci. USA, 2022 119(14): e2115083119.
  22. Guerrero Muñoz, P. A.,* Y. Murakami,* A. Malik, P. H. Seeberger, T. Kinoshita and D. Varón Silva. 2021. Rescue of glycosylphosphatidylinositol-anchored protein biosynthesis using synthetic glycosylphosphatidylinositol oligosaccharides. ACS Chem. Biol. 2021 16:2297-2306.
  23. Duval, R., G. Nicolas, A. Willemetz, Y. Murakami, M. Mikdar, C. Vrignaud, H. Megahed, J.-P., Cartron, C. Masson, S. Wehbi, B. Koehl, M. Hully, K. Siquier, N. Chemlay, A. Rotig, S. Lyonnet, Y. Colin, G. Barcia, V. Cantagrel, C. Le Van Kim, O. Hermine, T. Kinoshita, #, T. Peyrard# and S. Azouzi.# 2021. Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood, 2021 137(26):3660-3669.
  24. Tremblay-Laganière, C., Thi Tuyet Mai Nguyen, R. Maroofian, E. Ghayoor Karimiani, S. Kirmani, F. Akbar, S. Ibrahim, B. Afroze, M. Doosti, F. Ashrafzadeh, M. Babaei, S. Efthymiou, T. Sultan, R. L. Ladda, H. M. McLaughlin, R. Truty, S. Mahida, J. Cohen, K. Baranano, F. Ismail, M. S. Patel, A. Lehman, A. C. Edmondson, A. Nagy, M. A. Walker, S. Mercimek-Andrews, Y. Maki, R. Sachdev, R. Macintosh, E. E. Palmer, G. M. S. Mancini, T. Stefan Barakat, R. Steinfeld, C. Rüsch, G. Stettner, M. Wagner, S. B. Wortmann, U. Kini, A. F. Brady, K. L. Stals, N. Ismayilova, S. Ellard, H. Houlden, T. Kinoshita, P. M. Campeau and Y. Murakami. 2021. PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesGenet. Med., 2021 23(10):1873-1881.
  25. Salian, S., H. Benkerroum, T. T. M. Nguyen, S. Nampoothiri, T. Kinoshita, T. M. Félix, F. Stewart, S. M. Sisodiya, Y. Murakami and P. M. Campeau. 2021. PIGF deficiency causes a phenotype overlapping with DOORS syndrome.Hum. Genet., 140(6):879-884.
  26. Thompson, M., A. Knaus, A. Caliebe, H. Muhle, M. Nguyen, N. Baratang, T. Kinoshita, M. Percy, P. Campeau, Y. Murakami, P. Krawitz, D. Cole, and C. Mabry. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: molecular genetics of the prototypical inherited GPI disorder. Eur J Med Genet. 2020.63(4):103822.
  27. Wang, Y., Y. Maeda, Y.-S. Liu, Y. Takada, A. Ninomiya, T. Hirata, M. Fujita, Y. Murakami, and T. Kinoshita. Cross-talks of glycosylphosphatidylinositol biosynthesis with glycosphingolipid biosynthesis and ER-associated degradation. Nat. Commun., 2020.11:860.
  28. Nguyen, T. T. M., Y. Murakami, S. Mobilio, M. Niceta, G. Zampino, C. Philippe, S. Moutton, M. S. Zaki, K. James, D. Musaev, W. Mu, K. Baranano, J. R. Nance, J. A. Rosenfeld, N. Braverman, A. Ciolfi, F. Millan, R. E. Person, A.-L. Bruel, C. Thauvin-Robinet, A. Ververi, C. DeVile, A. Male, S. Efthymiou, R. Maroofian, H. Houlden, S. Maqbool, F. Rahman, N. V. Baratang, J. Rousseau, A. St-Denis, M. J. Elrick, I. Anselm, L.H. Rodan, M. Tartaglia, J. Gleeson, T. Kinoshita and P. M. Campeau.Bi-allelic variants in the GPI transamidase subunit PIGK cause a neurodevelopmental syndrome with hypotonia and cerebellar atrophy and epilepsy. Am J Hum Genet. 2020.106(4):484-495.
  29. Langemeijer, S., C. Schaap, F. Preijers, J. H. Jansen, N. Blijlevens, N. Inoue, P. Muus, T. Kinoshita and Y. Murakami. Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kb microdeletion on 15q. Blood Adv., 2020.4(22):5755-5761.
  30. Wang, Y., T. Hirata, Y. Maeda, Y. Murakami, M. Fujita and T. Kinoshita. Free, unlinked glycosylphosphatidylinositols on mammalian cell surfaces revisited. J. Biol. Chem., 2019.294:5038-5049.
  31. Murakami, Y.,* T. T. M. Nguyen*, N. Baratang, P. K. Raju, A. Knaus, S. Ellard, G. Jones, B. Lace, J. Rousseau, N. F. Ajeawung, A. Kamei, G. Minase, M. Akasaka, N. Araya, E. Koshimizu, J. van den Ende, F. Erger, J. Altmüller, Z. Krumina, J. Strautmanis, I. Inashkina, J. Stavusis, A. El-Gharbawy, J. Sebastian, R. Dua Puri, S. Kulshrestha, I. C. Verma, E. M. Maier, T. Haack, A. Israni, J. Baptista, A. Gunning, J. A. Rosenfeld, P. Liu, M. Joosten, M. E. Rocha, M. O. Hashem, H. M. Aldhalaan, F. S. Alkuraya, S. Miyatake, N. Matsumoto, P. Krawitz, E. Rossignol, T. Kinoshita and P. M. Campeau. Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases. Am. J. Hum. Genet., 2019.105:384-394.
  32. Knaus, A., F. Kortüm, T. Kleefstra, A. Stray-Pedersen, D. Dukić, Y. Murakami, T. Gerstner, H. van Bokhoven, Z. Iqbal, D. Horn, T. Kinoshita, M. Hempel and P, M. Krawitz. Mutations in PIGU impair the function of the GPI transamidase complex causing severe intellectual disability, epilepsy and brain anomalies. Am. J. Hum. Genet., 2019.105:395-402.
  33. Hoechsmann, B.*, Y. Murakami*, M. Osato*, A. Knaus, M. Kawamoto, N. Inoue, T. Hirata, S. Murata, M. Anliker, T. Eggermann, M. Jaeger, R. Floettmann, A. Hoellein, S. Murase, Y. Ueda, J. Nishimura, Y. Kanakura, N. Kohara, H. Schrezenmeier+, P. M. Krawitz+ and T. Kinoshita+. Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. Clin Invest. 2019 Dec 2;129(12):5123-5136.
  34. Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J; DDD Study, Kinoshita T, Kini U, Taylor JC. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Hum Mutat. 2018 Jun;39(6):822-826.
  35. Mogami Y, Suzuki Y, Murakami Y, Ikeda T, Kimura S, Yanagihara K, Okamoto N, Kinoshita T. Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency. Epileptic Disord. 2018 Feb 1;20(1):42-50.
  36. Hirata T, Mishra SK, Nakamura S, Saito K, Motooka D, Takada Y, Kanzawa N, Murakami Y, Maeda Y, Fujita M, Yamaguchi Y, Kinoshita T.Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain. Nat Commun. 2018 Jan 26;9(1):405.
  37. Liu YS, Guo XY, Hirata T, Rong Y, Motooka D, Kitajima T, Murakami Y, Gao XD, Nakamura S, Kinoshita T, Fujita M.N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing.J Cell Biol. 2018 Feb 5;217(2):585-599.
  38. Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Am J Hum Genet. 2017 Nov 2;101(5):856-865.
  39. Kohashi K, Ishiyama A, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M.Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.Brain Dev. 2018 Jan;40(1):53-57.
  40. Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y.Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.Hum Mutat. 2017 Jul;38(7):805-815.
  41. Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Hum Mol Genet. 2017 May 1;26(9):1706-1715.
  42. Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N; DDD Study, Kinoshita T, Taylor JC, Kini U. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Eur J Hum Genet. 2017 Jun;25(6):669-679.
  43. Ihara S, Nakayama S, Murakami Y, Suzuki E, Asakawa M, Kinoshita T, Sawa H. PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.J Cell Sci. 2017 Feb 1;130(3):602-613.
  44. Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Kinoshita T, Murakami Y, O'Brien DP. A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.Neurogenetics. 2017 Jan;18(1):39-47.
  45. Lee GH, Fujita M, Takaoka K, Murakami Y, Fujihara Y, Kanzawa N, Murakami KI, Kajikawa E, Takada Y, Saito K, Ikawa M, Hamada H, Maeda Y, Kinoshita T. A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO.J Cell Biol. 2016 Dec 5;215(5):705-718.
  46. Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.J Med Genet. 2017 Mar;54(3):196-201.
  47. Hogrebe M, Murakami Y, Wild M, Ahlmann M, Biskup S, Hörtnagel K, Grüneberg M, Reunert J, Linden T, Kinoshita T, Marquardt T. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.Am J Med Genet A. 2016 Dec;170(12):3319-3322.
  48. Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.Hum Mutat. 2016 Aug;37(8):737-44.
  49. Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Am J Hum Genet. 2016 Apr 7;98(4):615-26.
  50. Nakagawa T, Taniguchi-Ikeda M, Murakami Y, Nakamura S, Motooka D, Emoto T, Satake W, Nishiyama M, Toyoshima D, Morisada N, Takada S, Tairaku S, Okamoto N, Morioka I, Kurahashi H, Toda T, Kinoshita T, Iijima K. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.Am J Med Genet A. 2016 Jan;170A(1):183-8.
  51. Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.Hum Mol Genet. 2015 Nov 1;24(21):6146-59.
  52. Hirata T, Fujita M, Nakamura S, Gotoh K, Motooka D, Murakami Y, Maeda Y, Kinoshita T. Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport.Mol Biol Cell. 2015 Sep 1;26(17):3071-84.
  53. Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015 Dec;23(12):1689-93.
  54. Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.Mutations in PIGL in a patient with Mabry syndrome Am J Med Genet A. 2015 Apr;167A(4):777-85.
  55. Nakashima, M., H. Kashii, Y. Murakami, M. Kato, Y. Tsurusaki, N. Miyake, M. Kubota, T. Kinoshita, H. Saitsu, N. Matsumoto. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenet., 2014; 15: 193-200.
  56. Murakami, Y., H. Tawamie, Y. Maeda, C, Buttner, R. Buchert, F. Radwan, S. Schaffer, H. Sticht, M. Aigner, A. Reis, T. Kinoshita and R. A. Jamra. Null mutation in PGAP1 impairs GPI-anchor maturation and causes severe non-syndromic recessive intellectual disability. PLoS Genet., 2014.;10(5):e1004320.
  57. Kato, M1., H. Saitsu1, Y. Murakami1, K. Kikuchi, S. Watanabe, M. Iai, K. Miya, R. Matsuura, R. Takayama, C. Ohba, M. Nakashima, Y. Tsurusaki, N. Miyake, S. Hamano, H. Osaka, K. Hayasaka, T. Kinoshita and N. Matsumoto. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology, 2014.; 82:1587-1596.　 1Equal contribution　　　　(In Focus の論文に採択、同号の表紙に掲載)
  58. Martin, H. C., G. Kim, A. T. Pagnamenta, Y. Murakami, G. Carvill, E. Meyer, R. Copley, A. Rimmer, G. Barcia, M. Fleming, J. Kronengold, M. R. Brown, K. A. Hudspith, J. Broxholme, A. Kanapin, J.-B. Cazier, T. Kinoshita, R. Nabbout, The WGS600 Consortium, D. Bentley, G. McVean, S. Heavin, Z. Zaiwalla, T. McShane, H. Mefford, D. Shears, H. Stewart, M. A. Kurian, I. E. Scheffer, E. Blair, P. Donnelly, L. K. Kaczmarek and J. Taylor. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum. Mol. Genet., 2014; 23: 3200-3211.
  59. Nakamura, K., H. Osaka, Y. Murakami, R. Anzai, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, T. Kinoshita, N. Matsumoto, H. Saitsu.　 PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. Epilepsia, 2014; 55(2):e13-e17
  60. Howard, M. F1., Y. Murakami1, A. T. Pagnamenta1, C. Daumer-Haas, B. Fischer, J. Hecht, D. A. Keays, S. J. L. Knight, U. Kölsch, U. Krüger, S. Leiz, Y. Maeda, D. Mitchell, S. Mundlos, J. A. Phillips III, P. N. Robinson, U. Kini, J. C. Taylor, D. Horn, T. Kinoshita, P. M. Krawitz. Mutations in PGAP3 impair GPI-anchor maturation causing a new subtype of hyperphosphatasia with intellectual disability. Am. J. Hum. Genet., 2014; 94:278-287. 　 1Equal contribution
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