{"id":11,"date":"2019-06-12T11:32:18","date_gmt":"2019-06-12T02:32:18","guid":{"rendered":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?page_id=11"},"modified":"2026-10-22T08:16:45","modified_gmt":"2026-10-21T23:16:45","slug":"%e6%9c%80%e8%bf%91%e3%81%ae%e6%a5%ad%e7%b8%be","status":"publish","type":"page","link":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?page_id=11","title":{"rendered":"\u696d\u7e3e"},"content":{"rendered":"\n

\u8ad6\u6587\u30fb\u8457\u66f8<\/h2>\n\n\n\n

\u82f1\u6587\u306e * \u306f\u8cac\u4efb\u8457\u8005\u3092\u3064\u3068\u3081\u3066\u3044\u308b\u3082\u306e<\/p>\n\n\n\n

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  1. *Suomalainen A, *DeBerardinis RJ, *Baruteau J, *Puccio H, *Otomo T, *Falk MJ. Rare science, real impact: shaping the future of research on rare metabolic diseases. Nat Metab.<\/em><\/strong> 2026 Sep 23. Online ahead of print. Viewpoint<\/li>\n\n\n\n
  2. Fujita T, Terawaki S, Moriwaki T, *Otomo T. M6PR\/IGF2R double-knockout supplies therapeutic sources for mucolipidosis II and Niemann-Pick C2. J Biol Chem.<\/em><\/strong> 2026;302(10):113511.<\/li>\n\n\n\n
  3. Shibuya T, Akiyama T, Fujiyama T, *Otomo T. Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group. Orphanet J Rare Dis.<\/em><\/strong> 2026;21(1):336.<\/li>\n\n\n\n
  4. Terawaki S, Vasilev F, Sofronova V, Tanaka M, Mori Y, Iwata R, Moriwaki T, Fujita T, Maksimova N, *Otomo T. Triclabendazole suppresses cellular levels of glycosaminoglycan-A potential therapeutic agent for mucopolysaccharidoses and related diseases. iScience.<\/em><\/strong> 2025;28(8):113118.<\/li>\n\n\n\n
  5. Terawaki S, Nakanishi H, Shibuya T, Sakai N, *Otomo T. Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II. Int J Mol Sci.<\/em><\/strong> 2025;26(13):6275.<\/li>\n\n\n\n
  6. \u5927\u53cb\u5b5d\u4fe1\u300c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u52a3\u6027\u907a\u4f1d\uff09\uff08AR\uff09\u300d\u30b3\u30a2\u30ab\u30ea\u6e96\u62e0 \u81e8\u5e8a\u907a\u4f1d\u5b66\u30c6\u30ad\u30b9\u30c8\u30ce\u30fc\u30c8 \u6539\u8a02\u7b2c2\u7248\u30012024\u5e7412\u6708<\/li>\n\n\n\n
  7. \u5bfa\u8107\u6b63\u525b\u3001\u5927\u53cb\u5b5d\u4fe1\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u30fb\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u306e\u7570\u5e38\u75c7\u300d\u7279\u96c6 \u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5 2024\u3001\u65e5\u672c\u81e8\u7240\u7b2c82\u5dfb\u7b2c5\u53f7\u30012024\u5e745\u6708<\/li>\n\n\n\n
  8. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u6700\u65b0\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u6e96\u62e0 \u5c0f\u5150\u79d1 \u8a3a\u65ad\u30fb\u6cbb\u7642\u6307\u91dd\u30012024\u5e744\u6708<\/li>\n\n\n\n
  9. \u5927\u53cb\u5b5d\u4fe1\u300c\u7cd6\u86cb\u767d\u4ee3\u8b1d\u7570\u5e38\u75c7 Expert Overview\u300d\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u30af\u30ea\u30cb\u30ab\u30eb\u30d5\u30a1\u30a4\u30eb\u30012024\u5e744\u6708<\/li>\n\n\n\n
  10. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\/III\u578b\u300d\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u30af\u30ea\u30cb\u30ab\u30eb\u30d5\u30a1\u30a4\u30eb\u30012024\u5e744\u6708<\/li>\n\n\n\n
  11. Moriwaki T, Terawaki S, *Otomo T. Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy. J Biol Chem.<\/em><\/strong> 2024;300(3):105743.<\/li>\n\n\n\n
  12. Yusei O, Nagasu H, Nakagawa N, Terawaki S, Moriwaki T, Itano S, Kishi S, Sasaki T, Kashihara N, *Otomo T. A case series of Fabry diseases with CKD in Japan. Clin Exp Nephrol.<\/em><\/strong> 2024;28(5):404-408.<\/li>\n\n\n\n
  13. Terawaki S, Vasilev F, Moriwaki T, *Otomo T. HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis. Sci Rep.<\/em><\/strong> 2023;13(1):18734.<\/li>\n\n\n\n
  14. Moriwaki T, Masuno M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Takao K, Tawa K, Yamanouchi Y, Miki A, *Otomo T. A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay. Hum Genome Var.<\/em><\/strong> 2023;10(1):27.<\/li>\n\n\n\n
  15. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\uff0cIII\u578b\u300d\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff0d\u6700\u65b0\u306e\u75c5\u614b\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u9032\u6b69\uff0d\uff08\u6539\u8a02\u7b2c2\u7248\uff09\u30012023\u5e7410\u6708<\/li>\n\n\n\n
  16. \u68ee\u8107\u9686\u4ec1\u3001\u5927\u53cb\u5b5d\u4fe1\u300c\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u3068\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff0d\u6700\u65b0\u306e\u75c5\u614b\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u9032\u6b69\uff0d\uff08\u6539\u8a02\u7b2c2\u7248\uff09\u30012023\u5e7410\u6708<\/li>\n\n\n\n
  17. \u5bfa\u8107\u6b63\u525b\u3001\u68ee\u8107\u9686\u4ec1\u3001\u5927\u53cb\u5b5d\u4fe1\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u306e\u6a5f\u80fd\u3068\u53d6\u308a\u8fbc\u307f\u6a5f\u5e8f\u300d\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff0d\u6700\u65b0\u306e\u75c5\u614b\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u9032\u6b69\uff0d\uff08\u6539\u8a02\u7b2c2\u7248\uff09\u30012023\u5e7410\u6708<\/li>\n\n\n\n
  18. Sofronova V, Gotovtseva L, Danilova A, Sukhomyasova A, Moriwaki T, Terawaki S, Otomo T, Maksimova N. Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS). Genes (Basel)<\/em><\/strong> 2023;14(8):1581.<\/li>\n\n\n\n
  19. Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, *Otomo T. A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines. Int J Mol Sci.<\/em><\/strong> 2023;24(6):5647.<\/li>\n\n\n\n
  20. \u8fd1\u85e4\u79c0\u4ec1\u3001\u5927\u53cb\u5b5d\u4fe1\u3000\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\u30fbIII\u578b\u300d\u5c0f\u5150\u5185\u79d1 \u5c0f\u5150\u75be\u60a3\u8a3a\u7642\u306e\u305f\u3081\u306e\u75c5\u614b\u751f\u74063, \u6539\u8a02\u7b2c6\u7248\u30012022\u5e7412\u6708<\/li>\n\n\n\n
  21. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u4ee5\u5916\uff09\u300d\u65e5\u672c\u81e8\u7240 \u5225\u518a\u9818\u57df\u5225\u75c7\u5019\u7fa4\u30b7\u30ea\u30fc\u30ba\u300c\u814e\u81d3\u75c7\u5019\u7fa4\uff08\u7b2c3\u7248\uff09II\u300d\u30012022\u5e749\u6708<\/li>\n\n\n\n
  22. Teranishi H, Tabata K, Saeki M, Umemoto T, Hatta T, Otomo T, Yamamoto K, Natsume T, Yoshimori T, Hamasaki M. Identification of CUL4A-DDB1-WDFY1 as an E3 ubiquitin ligase complex involved in initiation of lysophagy. Cell Rep.<\/em><\/strong> 2022;40(11):111349.<\/li>\n\n\n\n
  23. \u5927\u53cb\u5b5d\u4fe1\u300c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u5fc5\u9808\u304b\uff1f\u300d\u5c0f\u5150\u79d1\u8a3a\u7642Controversy\u30012022\u5e749\u6708<\/li>\n\n\n\n
  24. \u5927\u53cb\u5b5d\u4fe1\u300c\u30a2\u30df\u30ce\u9178\u4ee3\u8b1d\u7570\u5e38\u75c7\u300d\u5c0f\u5150\u79d1\u8a3a\u7642\u6307\u91dd\u30a8\u30c3\u30bb\u30f3\u30b9\u30012022\u5e749\u6708<\/li>\n\n\n\n
  25. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u5c0f\u5150\u79d1\u8a3a\u7642\u6307\u91dd\u30a8\u30c3\u30bb\u30f3\u30b9\u30012022\u5e749\u6708<\/li>\n\n\n\n
  26. \u5927\u53cb\u5b5d\u4fe1\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5\u300d\u5c0f\u5150\u79d1\u8a3a\u7642\u6307\u91dd\u30a8\u30c3\u30bb\u30f3\u30b9\u30012022\u5e749\u6708<\/li>\n\n\n\n
  27. Ohira S, Nakano T, Uesugi S, Kouguchi Y, Tamura M, Hiramatsu T, Atarashi M, Nakatsuka T, Hirata K, Tanaka T, Kimura T, Kanda E, Tohyama K, Otomo T, Nagai A. Changes in serum antibody titers after vaccination for COVID-19 and evaluation of post-vaccination health conditions. Kawasaki Medical Journal<\/em><\/strong> 2022;48:73-85.<\/li>\n\n\n\n
  28. Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Moriwaki T, Iwata R, Terawaki S, Yamanouchi Y, *Otomo T. A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. Hum Genome Var.<\/em><\/strong> 2022;9(1):26.<\/li>\n\n\n\n
  29. Sofronova V, Iwata R, Moriya T, Loskutova K, Gurinova E, Chernova M, Timofeeva A, Shvedova A, Vasilev F, Novgorodova S, Terawaki S, Moriwaki T, Sukhomyasova A, Maksimova N, *Otomo T. Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome. Int J Mol Sci.<\/em><\/strong> 2022;23(10):5851.<\/li>\n\n\n\n
  30. \u5927\u53cb\u5b5d\u4fe1\u300c\u5148\u5929\u6027\u30e0\u30b3\u591a\u7cd6\u75c7\u300d\u671d\u5009\u66f8\u5e97\u300c\u5185\u79d1\u5b66 \u7b2c12\u7248\u300d\u30012022\u5e743\u6708<\/li>\n\n\n\n
  31. \u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u5236\u5ea6\u59d4\u54e1\u4f1a\u76e3\u4fee\u3001\u6e05\u6c34\u5065\u53f8 \u8cac\u4efb\u7de8\u96c6\u3001\u5927\u53cb\u5b5d\u4fe1 \u68ee\u8c9e\u76f4\u54c9 \u7de8\u96c6\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30c6\u30ad\u30b9\u30c8\uff13\u300c\u5404\u8ad6II \u81e8\u5e8a\u907a\u4f1d\u5b66 \u5c0f\u5150\u9818\u57df\u300d\u8a3a\u65ad\u3068\u6cbb\u7642\u793e \u30012021\u5e7411\u6708<\/li>\n\n\n\n
  32. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u3068\u7cd6\u8102\u8cea\u300d\u8a3a\u65ad\u3068\u6cbb\u7642\u793e \u30d5\u30a1\u30d6\u30ea\u30fc\u75c5 Update \u7b2c2\u7248\u30012021\u5e7411\u6708<\/li>\n\n\n\n
  33. Nakaoka S, Kondo H, Matsuoka K, Shibuya T, Otomo T, Hamada Y, Sakamoto K, Ozono K, Sakai N. Mucolipidosis \u2161 and III with neurological symptoms due to spinal cord compression. Brain Dev.<\/em><\/strong> 2021;43(8):867-872.<\/li>\n\n\n\n
  34. Maruta K, Ando M, Otomo T, Takashima H. A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene [Article in Japanese]. Rinsho Shinkeigaku.<\/em><\/strong> 2020;60(8):543-548.<\/li>\n\n\n\n
  35. Ikari S, Lu SL, Hao F, Imai K, Araki Y, Yamamoto YH, Tsai CY, Nishiyama Y, Shitan N, Yoshimori T, Otomo T, Noda T. Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan. PLoS One.<\/em><\/strong> 2020;15(3):e0230156.<\/li>\n\n\n\n
  36. Vasilev F, Sukhomyasova A, *Otomo T. Mucopolysaccharidosis-Plus Syndrome. Int J Mol Sci.<\/em><\/strong> 2020;21(2). Review<\/li>\n\n\n\n
  37. Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S. Biallelic VPS35L pathogenic variants cause 3C\/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. J Med Genet.<\/em><\/strong> 2020;57(4):245-253.<\/li>\n\n\n\n
  38. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u3068\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u300d\u65e5\u672c\u81e8\u7240\u7b2c77\u5dfb\u30fb\u7b2c8\u53f7 \u7279\u96c6 \u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5 \u2212\u6700\u65b0\u60c5\u5831\u3068\u5c06\u6765\u5c55\u671b\u2212\u30012019\u5e748\u6708<\/li>\n\n\n\n
  39. Ono S, Matsuda J, Watanabe E, Akaike H, Teranishi H, Miyata I, Otomo T, Sadahira Y, Mizuochi T, Kusano H, Kage M, Ueno H, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Hayashi Y, Kanegane H, Ouchi K. Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. Hum Genome Var.<\/em><\/strong> 2019;6:2.<\/li>\n\n\n\n
  40. \u5927\u53cb\u5b5d\u4fe1\u300c\u7cd6\u86cb\u767d\u8cea\u4ee3\u8b1d\u7570\u5e38\u75c7\u300d\u533b\u6b6f\u85ac\u51fa\u7248 \u5225\u518a\u30fb\u533b\u5b66\u306e\u3042\u3086\u307f\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u306e\u3059\u3079\u3066\u300d\u30012019\u5e741\u6708<\/li>\n\n\n\n
  41. Itoh K, Adachi Y, Yamada T, Suzuki TL, Otomo T, McBride HM, Yoshimori T, Iijima M, Sesaki H. A brain-enriched Drp1 isoform associates with lysosomes, late endosomes, and the plasma membrane. J Biol Chem.<\/em><\/strong> 2018;293(30):11809-11822. <\/li>\n\n\n\n
  42. Irahara-Miyana K, Otomo T, Kondo H, Hossain MA, Ozono K, Sakai N. Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type. J Hum Genet.<\/em><\/strong> 2018;63(6):699-706.<\/li>\n\n\n\n
  43. Otomo T. Mucolipidoses: clinical features, biochemistry, diagnosis, genetics, treatment. MPS Update (Chapter Book)<\/em><\/strong>, 2018:351-373.<\/li>\n\n\n\n
  44. Kondo H, Otomo T. Mucopolysaccharidosis-Plus Syndrome: a new type of mucopolysaccharidosis with severe systemic symptoms. MPS Update (Chapter Book)<\/em><\/strong>, 2018:375-383.<\/li>\n\n\n\n
  45. \u5927\u53cb\u5b5d\u4fe1\u300c\u7cd6\u86cb\u767d\u8cea\u4ee3\u8b1d\u7570\u5e38\u75c7\u300d\u533b\u6b6f\u85ac\u51fa\u7248 \u533b\u5b66\u306e\u3042\u3086\u307f \u7b2c1\u571f\u66dc\u7279\u96c6\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u306e\u3059\u3079\u3066\u300d\u30012018\u5e743\u6708<\/li>\n\n\n\n
  46. Hori I, Otomo T (co-first), Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep.<\/em><\/strong> 2017;7(1):3552.<\/li>\n\n\n\n
  47. Kondo H, Maksimova N, *Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. Hum Mol Genet.<\/em><\/strong> 2017;26(1):173-183.<\/li>\n\n\n\n
  48. Otomo T, Yoshimori T. Lysophagy: a method for monitoring lysosomal rupture followed by autophagy dependent recovery. Methods Mol Biol.<\/em><\/strong>2017;1594:141-149. <\/li>\n\n\n\n
  49. Sakai N, Otomo T. Challenge of phenotype estimation for optimal treatment of Krabbe disease. J Neurosci Res.<\/em><\/strong> 2016;94(11):1025-30. Review<\/li>\n\n\n\n
  50. Klionsky DJ, et al.<\/em>Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy.<\/em><\/strong> 2016;12(1):1-222.<\/li>\n\n\n\n
  51. Hasegawa J, Iwamoto R, Otomo T, Nezu A, Hamasaki M, Yoshimori T. Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome. EMBO J.<\/em><\/strong> 2016;35(17):1853-1867.<\/li>\n\n\n\n
  52. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\u578b\u30fbIII\u578b\u300d\u5c0f\u5150\u5185\u79d1 \u5c0f\u5150\u75be\u60a3\u8a3a\u7642\u306e\u305f\u3081\u306e\u75c5\u614b\u751f\u74063, 48\uff08\u5897\u520a\u53f7\uff09\u30012016\u5e7411\u6708<\/li>\n\n\n\n
  53. *Otomo T, Schweizer M, Kollmann K, Schumacher V, Muschol N, Tolosa E, Mittr\u00fccker HW, Braulke T. Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions. J Cell Biol.<\/em><\/strong> 2015;208(2):171-180.<\/li>\n\n\n\n
  54. Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. Gene.<\/em><\/strong> 2014;534(2):144-154.<\/li>\n\n\n\n
  55. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\u578b\uff0cIII\u578b\u300d\u65e5\u672c\u81e8\u7240 \u5225\u518a\u65b0\u9818\u57df\u5225\u75c7\u5019\u7fa4\u30b7\u30ea\u30fc\u30ba\u300c\u795e\u7d4c\u75c7\u5019\u7fa4\uff08\u7b2c2\u7248\uff09\uff13\u300d\u30012014\u5e746\u6708<\/li>\n\n\n\n
  56. Kollmann K, Pestka JM, K\u00fchn SC, Sch\u00f6ne E, Schweizer M, Karkmann K, Otomo T, Catala-Lehnen P, Failla AV, Marshall RP, Krause M, Santer R, Amling M, Braulke T, Schinke T. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med.<\/em><\/strong> 2013;5(12):1871-1886. <\/li>\n\n\n\n
  57. Chang B, Gorbea C, Lezin G, Li L, Shan L, Sakai N, Kogaki S, Otomo T, Okinaga T, Hamaoka A, Yu X, Hata Y, Nishida N, Yost HJ, Bowles NE, Brunelli L, Ichida F. 14-3-3\u03b5 Gene Variants in a Japanese Patient with Left Ventricular Noncompaction and Hypoplasia of the Corpus Callosum. Gene.<\/em><\/strong> 2013;515(1):173-180.<\/li>\n\n\n\n
  58. Hara M, Inokuchi T, Taniwaki T, Otomo T, Sakai N, Matsuishi T, Yoshino M. An adult patient with mucolipidosis III alpha\/beta presenting with parkinsonism. Brain Dev.<\/em><\/strong> 2013;35(5):462-465.<\/li>\n\n\n\n
  59. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\u578b\u30fbIII\u578b\u300d\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u30cf\u30f3\u30c9\u30d6\u30c3\u30af\u30012013\u5e743\u6708<\/li>\n\n\n\n
  60. Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S. Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan. Mol Genet Metab.<\/em><\/strong> 2012;107(3):513-520.<\/li>\n\n\n\n
  61. *Otomo T, Hossain MA, Ozono K, Sakai N. Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts. Mol Genet Metab.<\/em><\/strong> 2012;105(2):266-269.<\/li>\n\n\n\n
  62. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2161\u578b\uff0c\u2162\u578b\u300d\u65e5\u672c\u81e8\u7240 \u5225\u518a\u65b0\u9818\u57df\u5225\u75c7\u5019\u7fa4\u30b7\u30ea\u30fc\u30ba\u300c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u5019\u7fa4\uff08\u7b2c2\u7248\uff09\u4e0b\u300d\u30012012\u5e7412\u6708<\/li>\n\n\n\n
  63. Hashimoto N, Kagitani-Shimono K, Sakai N, Otomo T, Tominaga K, Nabatame S, Mogami Y, Takahashi Y, Imai K, Yanagihara K, Okinaga T, Nagai T, Taniike M, Ozono K. SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome. J Hum Genet.<\/em><\/strong> 2011;56(12):846-851.<\/li>\n\n\n\n
  64. *Otomo T, Higaki K, Nanba E, Ozono K, Sakai N. Lysosomal Storage Causes Cellular Dysfunction in Mucolipidosis II Skin Fibroblasts. J Biol Chem.<\/em><\/strong> 2011;286(40):35283-35290.<\/li>\n\n\n\n
  65. Otomo T, Yamamoto T, Fujikawa Y, Shimotsuji T, Ozono K. Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. Clin Pediatr Endocrinol.<\/em><\/strong> 2011;20(1):7-12.<\/li>\n\n\n\n
  66. Kobayashi H, Takahashi-Fujigasaki J, Fukuda T, Sakurai K, Shimada Y, Nomura K, Ariga M, Ohashi T, Eto Y, Otomo T, Sakai N, Ida H. Pathology of the first autopsy case diagnosed as mucolipidosis type III alpha\/beta suggesting autophagic dysfunction. Mol Genet Metab.<\/em><\/strong> 2011;102(2):170-175.<\/li>\n\n\n\n
  67. \u5927\u53cb\u5b5d\u4fe1\u3001\u9152\u4e95\u898f\u592b\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2161\u30fb\u2162\u578b\u300d\u30e0\u30b3\u591a\u7cd6\u75c7\uff35\uff30\uff24\uff21\uff34\uff25\u3001\u30a4\u30fc\u30a8\u30cc\u30e1\u30c7\u30a3\u30c3\u30af\u30b9\u30012011\u5e7412\u6708<\/li>\n\n\n\n
  68. \u5927\u53cb\u5b5d\u4fe1\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2161\u30fb\u2162\u578b\u300d\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff0d\u6700\u65b0\u306e\u75c5\u614b\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u9032\u6b69\uff0d\u30012011\u5e746\u6708<\/li>\n\n\n\n
  69. Otomo T, Higaki K, Nanba E, Ozono K, Sakai N. Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. Mol Genet Metab.<\/em><\/strong> 2009;98(4):393-399.<\/li>\n\n\n\n
  70. Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Mucolipidosis II and III alpha\/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet.<\/em><\/strong> 2009;54(3):145-151.<\/li>\n\n\n\n
  71. \u5927\u53cb\u5b5d\u4fe1\u3001\u9152\u4e95\u898f\u592b\u300c\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\u578b\u30fbIII\u578b\u300d\u5c0f\u5150\u5185\u79d1 \u5c0f\u5150\u75be\u60a3\u8a3a\u7642\u306e\u305f\u3081\u306e\u75c5\u614b\u751f\u7406, 41\uff08\u5897\u520a\u53f7\uff09\u30012009\u5e748\u6708<\/li>\n\n\n\n
  72. \u5927\u53cb\u5b5d\u4fe1\u3001\u9152\u4e95\u898f\u592b\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c53:\u5fc3\u56e0\u6027\u8996\u529b\u969c\u5bb3\u3068\u3057\u3066\u30d5\u30a9\u30ed\u30fc\u3055\u308c\u3066\u3044\u305f\u7537\u5150\u300d\u75c7\u4f8b\u304b\u3089\u5b66\u3076\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u30012009\u5e747\u6708<\/li>\n\n\n\n
  73. Otomo T, Yamamoto S, Morishita R, Kaneda Y. EBV replicon vector system enhances transgene expression in vivo: applications to cancer gene therapy. J Gene Med.<\/em><\/strong> 2001;3(4):345-352.<\/li>\n<\/ol>\n\n\n\n
    \n\n\n\n

    \u516c\u7684\u8cc7\u91d1\u7372\u5f97\uff08\u4ee3\u8868\u306e\u307f\uff09<\/h2>\n\n\n\n
      \n
    1. \u57fa\u76e4\u7814\u7a76\uff08B\uff09\uff082025-2028\u5e74\u5ea6\uff09\n
        \n
      • \u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u9175\u7d20\u306e\u7d30\u80de\u5185\u65b0\u898f\u8f38\u9001\u7d4c\u8def\u306e\u540c\u5b9a\u3068\u3001\u305d\u306e\u5236\u5fa1\u306b\u3088\u308b\u75be\u60a3\u514b\u670d\u3078\u306e\u5fdc\u7528\u300d<\/li>\n<\/ul>\n<\/li>\n\n\n\n
      • \u57fa\u76e4\u7814\u7a76\uff08B\uff09\uff082022-2024\u5e74\u5ea6\uff09\n
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        • \u300c\u5c0f\u80de\u8f38\u9001\u75c5\u3068\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u3092\u5305\u62ec\u3059\u308b\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u306e\u78ba\u7acb\u3068\u6cbb\u7642\u958b\u767a\u3078\u306e\u57fa\u76e4\u7814\u7a76\u300d<\/li>\n<\/ul>\n<\/li>\n\n\n\n
        • \u7279\u5225\u7814\u7a76\u54e1\u5968\u52b1\u8cbb\uff082018-2019\u5e74\u5ea6\uff09\uff08\u5916\u56fd\u4eba\u7279\u5225\u7814\u7a76\u54e1\u306e\u53d7\u5165\u308c\uff09\n
            \n
          • \u300c\u907a\u4f1d\u6027\u5e0c\u5c11\u75be\u60a3\u306e\u75c5\u614b\u89e3\u6790\u304b\u3089\u660e\u3089\u304b\u306b\u3059\u308b\u30ea\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u7570\u5e38\u306e\u5206\u5b50\u57fa\u76e4\u300d<\/li>\n<\/ul>\n<\/li>\n\n\n\n
          • \u82e5\u624b\u7814\u7a76\uff08A\uff09\uff082017-2019\u5e74\u5ea6\uff09\n
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            • \u300c\u30ea\u30bd\u30bd\u30fc\u30e0\u84c4\u7a4d\u75c5\u3068\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u75c5\u306e\u75c5\u614b\u306e\u5305\u62ec\u7684\u7406\u89e3\u3068\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u300d<\/li>\n<\/ul>\n<\/li>\n\n\n\n
            • \u82e5\u624b\u7814\u7a76\uff08A\uff09\uff082015-2016\u5e74\u5ea6\uff09\n
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              • \u300c\u30ea\u30bd\u30bd\u30fc\u30e0\u84c4\u7a4d\u75c5\u306e\u75c5\u614b\u306b\u95a2\u4e0e\u3059\u308b\u30ea\u30bd\u30d5\u30a1\u30b8\u30fc\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u300d<\/li>\n<\/ul>\n<\/li>\n\n\n\n
              • \u7279\u5225\u7814\u7a76\u54e1\u5968\u52b1\u8cbb\uff082014-2016\u5e74\u5ea6\uff09\n
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                • \u300c\u30ea\u30bd\u30bd\u30fc\u30e0\u306e\u30bf\u30fc\u30f3\u30aa\u30fc\u30d0\u30fc\u3068\u6570\u306b\u95a2\u3059\u308b\u5236\u5fa1\u6a5f\u69cb\u300d<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n
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                  \u53d7\u8cde<\/h2>\n\n\n\n
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                  • 2018\u5e74\u3000\u7b2c60\u56de\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a \u82e5\u624b\u512a\u79c0\u6f14\u984c\u8cde<\/li>\n\n\n\n
                  • 2015\u5e74\u3000Hamburg University Eppendorf Medical Center, Paper of the Month<\/li>\n\n\n\n
                  • 2014\u5e74\u3000\u5927\u962a\u5c0f\u5150\u5148\u9032\u533b\u7642\u7814\u7a76\u4f1a \u512a\u79c0\u5b66\u8853\u8ad6\u6587\u8cde<\/li>\n\n\n\n
                  • 2014\u5e74\u3000\u7b2c56\u56de\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a \u82e5\u624b\u512a\u79c0\u6f14\u984c\u8cde<\/li>\n\n\n\n
                  • 2012\u5e74\u3000\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a \u5968\u52b1\u8cde<\/li>\n\n\n\n
                  • 2012\u5e74\u3000\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a JHG\u8cde<\/li>\n\n\n\n
                  • 2012\u5e74\u3000\u7c73\u56fd\u5c0f\u5150\u79d1\u30a2\u30ab\u30c7\u30df\u30fc\u4f1a\u8b70\uff08PAS\uff09JPS Fellow Awards<\/li>\n\n\n\n
                  • 2011\u5e74\u3000\u5927\u962a\u5c0f\u5150\u5148\u9032\u533b\u7642\u7814\u7a76\u4f1a \u512a\u79c0\u5b66\u8853\u8ad6\u6587\u8cde<\/li>\n\n\n\n
                  • 2011\u5e74\u3000\u7b2c53\u56de\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a \u82e5\u624b\u512a\u79c0\u6f14\u984c\u8cde<\/li>\n\n\n\n
                  • 2011\u5e74\u3000\u65e5\u672c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u7814\u7a76\u4f1a\u8cde\uff08\u9234\u6728\u90a6\u5f66\u7814\u7a76\u5968\u52b1\u8cde\uff09<\/li>\n\n\n\n
                  • 2010\u5e74\u3000\u7b2c52\u56de\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a \u82e5\u624b\u512a\u79c0\u6f14\u984c\u8cde<\/li>\n\n\n\n
                  • 2009\u5e74\u3000\u5927\u962a\u5c0f\u5150\u5148\u9032\u533b\u7642\u7814\u7a76\u4f1a \u512a\u79c0\u5b66\u8853\u8ad6\u6587\u8cde<\/li>\n\n\n\n
                  • 2009\u5e74\u3000\u7b2c51\u56de\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a \u82e5\u624b\u512a\u79c0\u6f14\u984c\u8cde<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

                    \u8ad6\u6587\u30fb\u8457\u66f8 \u82f1\u6587\u306e * \u306f\u8cac\u4efb\u8457\u8005\u3092\u3064\u3068\u3081\u3066\u3044\u308b\u3082\u306e \u516c\u7684\u8cc7\u91d1\u7372\u5f97\uff08\u4ee3\u8868\u306e\u307f\uff09 \u53d7\u8cde<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":5,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-11","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/pages\/11","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=11"}],"version-history":[{"count":58,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/pages\/11\/revisions"}],"predecessor-version":[{"id":1192,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/pages\/11\/revisions\/1192"}],"wp:attachment":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=11"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}