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4.Publications

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. 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)
  25. 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.
  26. 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.
  27. 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
  28. Chiyonobu, T., N. Inoue, M. Morimoto, T. Kinoshita and Y. Murakami. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J. Med. Genet., 2014; 51:203-207.
  29. Ohba, C., N. Okamoto, Y. Murakami, Y. Suzuki, Y. Tsurusaki, M. Nakashima, N. Miyake, F. Tanaka, T. Kinoshita, N. Matsumoto and H. Saitsu. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenet., 2013; 15:85-92.
  30. Kuki, I., Y. Takahashi, Okazaki, Ebara, N. Inoue, T. Kinoshita and Y. Murakami. Case report with vitamin B6 responsive epilepsy due to inherited GPI deficiency. Neurology, 2013; 81:1467-1469.
  31. Krawitz, P. M., Y. Murakami, A. Riess, M. Hietala, U. Krueger, N. Zhu, T. Kinoshita, S. Mundlos, J. Hecht, P. N. Robinson and D. Horn.PGAP2 mutations, affecting the GPI-anchor-synthesis-pathway, cause hyperphosphatasia with mental retardation syndrome. Am. J. Hum. Genet., 2013;92:584-589.
  32. Hansen, L., H. Tawamie, Y. Murakami, Y. Mang, S. ur Rehman, R. Buchert, S. Schaffer, S. Muhammad, M. Bak, M. M. Noethen, E. P. Bennett, Y. Maeda, M. Aigner, A. Reis, T. Kinoshita, N. Tommerup, S. M. Baig, R. A. Jamra.Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am. J. Hum. Genet., 2013;92:575-583.
  33. Krawitz, P. M., Y. Murakami, J. Hecht, U. Krüger, S. E. Holder, G. R. Mortier, B. delle Chiaie, M. D. Thompson, T. Roscioli, S. Kielbasa, T. Kinoshita, S. Mundlos, P. N. Robinson and D. Horn. Mutations in PIGO, a member of the GPI anchor synthesis pathway, cause hyperphosphatasia with mental retardation. Am. J. Hum. Genet., 2012;91:146-151.
  34. Murakami, Y., N. Kanzawa, K. Saito, P. M. Krawitz, S. Mundlos, P. N. Robinson, A. Karadimitris, Y. Maeda and T. Kinoshita.Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia-mental retardation syndrome. J. Biol. Chem., 2012;287:6318-6325.
  35. Krawitz, P. M., M. R. Schweiger, C. Rödelsperger, C. Marcelis, U. Kölsch, C, Meisel, F. Stephani, T. Kinoshita, Y. Murakami, S. Bauer, M. Isau, A. Fischer, A. Dahl, M. Kerick, J. Hecht, S. Köhler, M. Jaeger, J. Grünhagen, B. Jonske de Condor, S. Doelken, H. G. Brunner, P. Meinecke, E. Passarge, M. Thompson, D. E. Cole, D. Horn, T. Roscioli, S. Mundlos and P. N. Robinson.Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat. Genet., 2010;42:827-829.
  36. Almeida, A.M1., Y. Murakami1, A. Baker, Y. Maeda, I.A.G. Roberts, T. Kinoshita, D. M. Layton, and A. Karadimitris.Targeted therapy for inherited GPI deficiency. N. Engl. J. Med., 2007; 356: 1641-1647.   1Equal contribution
  37. Almeida, A1., Y. Murakami1, M. Layton, P. Hillmen, G. S. Sellick, Y. Maeda, S. Richards, S. Patterson, I. Kotsianidis, L. Mollica, D. Crawford, A. Baker, M. Ferguson, Roberts, R. Houlston, T. Kinoshita and A. Karadimitris. Hypomorphic promoter mutation in the mannosyltransferase-encoding PIG-M gene causes inherited glycosylphosphatidylinositol deficiency. Nat. Med., 2006; 12: 846-851. 1Equal contribution