国立研究開発法人 国立精神・神経医療研究センター 神経研究所 遺伝子疾患治療研究部




  1. Imamura M, Matsumoto H, Mannen H, Takeda S, Aoki Y: The R436Q missense mutation in WWP1 disrupts autoinhibition of its E3 ubiquitin ligase activity, leading to self-degradation and loss of function. In Vitro Cell Dev Biol Anim. 2024. [PubMed]
  2. Urano K, Tanaka Y, Tominari T, Takatoya M, Arai D, Miyata S, Matsumoto C, Miyaura C, Numabe Y, Itoh Y, Hirata M, Inada M: The stiffness and collagen control differentiation of osteoclasts with an altered expression of c-Src in podosome. Biochem Biophys Res Commun. 704:149636, 2024. [PubMed]
  3. Fusagawa H, Yamada T, Sato T, Ashida Y, Teramoto A, Takashima H, Naito A, Tokuda N, Yamauchi N, Ichise N, Ogon I, Yamashita T, Tohse N: Platelet-rich plasma does not accelerate the healing of damged muscle following muscle strain. J Orhop Res. 14(1):2329, 2024. [PubMed]
  4. Kunitake K, Motohashi N, Inoue T, Suzuki Y, Aoki Y: Characterization of CD90/Thy-1 as a crucial molecular signature for myogenic differentiation in human urine-derived cells through single-cell RNA sequencing. Sci Rep. 14(1):2329, 2024. [PubMed]


  1. Tominari T, Takatoya M, Matsubara T, Matsunobe M, Arai D, Matsumoto C, Hirata M, Yoshinouchi S, Miyaura C, Itoh Y, Komaki H, Takeda S, Aoki Y, Inada M: Establishment of a Triple Quadrupole HPLC-MS Quantitation Method for Dystrophin Protein in Mouse and Human Skeletal Muscle. Int J Mol Sci. 25(1):303, 2024. [PubMed] [TUATプレスリリース]
  2. Sakai-Takemura F, Saito F, Nogami K, Maruyama Y, Elhussieny A, Matsumura K, Takeda S, Aoki Y, Miyagoe-Suzuki Y: Antioxidants restore store-operated Ca2+ entry in patient-iPSC-derived myotubes with tubular aggregate myopathy-associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein. FASEB Bioadv. 5(11):453-469, 2023. [PubMed]
  3. Fusagawa H, Sato T, Yamada T, Ashida Y, Kimura I, Naito A, Tokuda N, Yamauchi N, Ichise N, Terashima Y, Ogon I, Teramoto A, Yamashita T, Tohse N: Skeletal muscle endurance declines with impaired mitochondrial respiration and inadequate supply of acetyl-CoA during muscle fatigue in 5/6 nephrectomized rats. J Appl Physiol. 135(4):731-746, 2023. [PubMed]
  4. Motohashi N, Minegishi K, Aoki Y: Inherited myogenic abilities in muscle precursor cells defined by the mitochondrial complex I-encoding protein. Cell Death Dis. 14(10):689, 2023. [Pubmed] [プレスリリース]
  5. Preethy S, Aoki Y, Minegishi K, Iwasaki M, Senthilkumar R, Abraham SJK: Resolution of fibrosis in mdx dystrophic mouse after oral consumption of N-163 strain of Aureobasidium pullulans produced β-glucan. Sci Rep. 13(1):17008, 2023. [PubMed]
  6. Rothé B, Ikawa Y, Zhang Z, Katoh TA, Kajikawa E, Minegishi K, Xiaorei S, Fortier S, Dal Peraro M, Hamada H, Constam DB: Bicc1 ribonucleoprotein complexes specifying organ laterality are licensed by ANKS6-induced structural remodeling of associated ANKS3. PLoS Biol. 21(9):e3002302, 2023. [PubMed]
  7. Watanabe N, Tone Y, Nagata T, Masuda S, Saito T, Motohashi N, Takagaki K, Aoki Y, Takeda S: Exon 44 skipping in Duchenne muscular dystrophy: NS-089/NCNP-02, a dual-targeting antisense oligonucleotide. Mol Ther Nucleic Acids. 34:102034, 2023. [PubMed] [プレスリリース]
  8. Yamauchi N, Tamai K, Kimura I, Naito A, Tokuda N, Ashida Y, Motohashi N, Aoki Y, Yamada T: High-intensity interval training in the form of isometric contraction improves fatigue resistance in dystrophin-deficient muscle. J Physiol. 601(14):2917-2933, 2023. [PubMed]
  9. Zhu A, Chiba S, Shimizu Y, Kunitake K , Okuno Y, Aoki Y, Yokota T: Ensemble-Learning and Feature Selection Techniques for Enhanced Antisense Oligonucleotide Efficacy Prediction in Exon Skipping. Pharmaceutics. 15(7):1808, 2023. [PubMed]
  10. Ishizuka T, Komaki H, Asahina Y, Nakamura H, Motohashi N, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Yonee C, Maruyama S, Hida E, Aoki Y : Systemic administration of the antisense oligonucleotide NS-089/NCNP-02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial. Neuropsychopharmacol Rep. 43(2):277-286, 2023. [PubMed]
  11. Aoki Y:Mr. Takashi Onaka Memorial Oration: I. Updates on solutions to DMD. J Stem Cells Regen Med. 19(1):19-21, 2023. [PubMed]
  12. Hirata M, Tominari T, Ichimaru R, Takiguchi N, Tanaka Y, Takatoya M, Arai D, Yoshinouchi S, Miyaura C, Matsumoto C, Ma S, Suzuki K, Grundler FMW, Inada M: Effects of 4'-Demethylnobiletin and 4'-Demethyltangeretin on Osteoclast Differentiation In Vitro and in a Mouse Model of Estrogen-Deficient Bone Resorption. Nutrients. 15(6):1403, 2023. [PubMed]
  13. Yoshinouchi S, Karouji K, Tominari T, Sugasaki M, Matsumoto C, Miyaura C, Hirata M, Itoh Y, Inada M: Prostate cancer expressing membrane-bound TGF-α induces bone formation mediated by the autocrine effect of prostaglandin E2 in osteoblasts. Biochem Biophys Res Commun. 644:40-48, 2023. [PubMed]
  14. Tanaka R, Yoshinouchi S, Karouji K, Tanaka Y, Tominari T, Hirata M, Matsumoto C, Itoh Y, Miyaura C, Inada M: A mouse model of lung cancer induced via intranasal injection for anticancer drug screening and evaluation of pathology. FEBS Open Bio. 13(1):51-59, 2023. [PubMed]
  15. Katoh TA, Omori T, Mizuno K, Sai X, Minegishi K, Ikawa Y, Nishimura H, Itabashi T, Kajikawa E, Hiver S, Iwane AH, Ishikawa T, Okada Y, Nishizaka T, Hamada H: Immotile cilia mechanically sense the direction of fluid flow for left-right determination. Science. 379(6627):66-71, 2023. [PubMed]


  1. Kunitake K, Ogura A, Iwata-Hatanaka M, Inagaki R, Furukawa S, Suzuki J, Nakai N, Nishida S, Katsuno M, Ito Y: Persistent brain damage in reversible cerebral vasoconstriction syndrome on 99mTc-ethyl cysteinate dimer single-photon emission computed tomography: A long-term observational study. J Neurol Sci. 442:120441, 2022. [PubMed]
  2. Matsunobe M, Motohashi N, Aoki E, Tominari T, Inada M, Aoki Y :Caveolin-3 regulates the activity of Ca2+/calmodulin-dependent protein kinase II in C2C12 cells. Am J Physiol Cell Physiol. 323(4):C1137-C1148, 2022. [PubMed]
  3. Ashida Y, Himori K, Tokuda N, Naito A, Yamauchi N, Takenaka-Ninagawa N, Aoki Y , Sakurai H, Yamada T:Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles. Am J Physiol Cell Physiol. 323(3):C885-C895, 2022. [PubMed]
  4. Hashimoto Y, Kuniishi H, Sakai K, Fukushima Y, Du X, Yamashiro K, Hori K, Imamura M , Hoshino M, Yamada M, Araki T, Sakagami H, Takeda S , Itaka K, Ichinohe N, Muntoni F, Sekiguchi M, Aoki Y :Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy. Prog Neurobiol. 216:102288, 2022. [PubMed]
  5. Saifullah, Tsukahara T: Integrated analysis of ALK higher expression in human cancer and downregulation in LUAD using RNA molecular scissors. Clin Transl Oncol. 24(9):1785-1799, 2022. [PubMed]
  6. Sai X, Ikawa Y, Nishimura H, Mizuno K, Kajikawa E, Katoh TA, Kimura T, Shiratori H, Takaoka K, Hamada H, Minegishi K:Planar cell polarity-dependent asymmetric organization of microtubules for polarized positioning of the basal body in node cells. Development. 149(9):dev200315, 2022. [PubMed]
  7. Saifullah, Tsukahara T: Integrated analysis of clinical consequence and associated gene of ALK expression in ALK-positive human cancer. Heliyon. 8(7):e09878, 2022. [PubMed]
  8. Naito M, Watanuki Y, Toh K, Yum J, Kim BS, Taniwaki K, Ogura S, Ishida H, Cho M, Chaya H, Miyajima K, Yamasaki Y, Osada K, Minegishi K, Aoki Y, Miyata K:Size-tunable PEG-grafted copolymers as a polymeric nanoruler for passive targeting muscle tissues. J Control Release. 347:607-614, 2022. [PubMed]
  9. Valentine WJ, Mostafa SA, Tokuoka SM, Hamano F, Inagaki NF, Nordin JZ, Motohashi N , Kita Y, Aoki Y , Shimizu T, Shindou H:Lipidomic Analyses Reveal Specific Alterations of Phosphatidylcholine in Dystrophic Mdx Muscle. Front Physiol. 12:698166, 2022. [PubMed]
  10. Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L, Gupta VA, Main M, Ferrari G, Kowala A, Lin YY, Tedesco FS, Scoto M, Baranello G, Manzur A, Aoki Y , Muntoni F:Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 13(2):1360-1372, 2022. [PubMed]


  1. Aoki Y, Rocha CSJ, Lehto T, Miyatake S, Johansson H, Hashimoto Y, Nordin JZ, Mager I, Aoki M, Graham M, Sathyaprakash C, Roberts TC, Wood MJA, Behlke MA, Andaloussi SE: Fine Tuning of Phosphorothioate Inclusion in 2'-O-Methyl Oligonucleotides Contributes to Specific Cell Targeting for Splice-Switching Modulation.Front Physiol. 12:689179, 2021. [PubMed]
  2. Mochizuki H, Aoki M, Ikenaka K, Inoue H, Iwatsubo T, Ugawa Y, Okazawa H, Ono K, Onodera O, Kitagawa K, Saito Y, Shimohata T, Takahashi R, Toda T, Nakahara J, Matsumoto R, Mizusawa H, Mitsui J, Murayama S, Katsuno M; Future Vision Committee of Japanese Society of Neurology; Aoki Y, Ishiura H, Izumi Y, Koike H, Shimada H, Takahashi Y, Tokuda T, Nakajima H, Hatano T, Misawa S, Watanabe H: Recommendations (Proposal) for promoting research for overcoming neurological diseases 2020.Rinsho Shinkeigaku. 61(11):709-721, 2021. [PubMed]
  3. Elhussieny A, Nogami K, Sakai-Takemura F, Maruyama Y, Takemura N, Soliman WT, Takeda S, Miyagoe-Suzuki Y: Mesenchymal stem cells derived from human induced pluripotent stem cells improve the engraftment of myogenic cells by secreting urokinase-type plasminogen activator receptor (uPAR). Stem Cell Res Ther. 12(1):532, 2021. [PubMed]
  4. Takizawa H , Mori-Yoshimura M, Minami N, Murakami N, Yatabe K, Taira K, Hashimoto Y , Aoki Y , Nishino I, Takahashi Y: A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy.Neuromuscul Disord. 31(7):666-672, 2021. [PubMed]
  5. Chiba S, Lim KRQ, Sheri N, Anwar S, Erkut E, Shah MNA, Aslesh T, Woo S, Sheikh O, Maruyama R, Takano H, Kunitake K , Duddy W, Okuno Y, Aoki Y , Yokota T: eSkip-Finder: a machine learning-based web application and database to identify the optimal sequences of antisense oligonucleotides for exon skipping.Nucleic Acids Res. 49(W1):W193-W198, 2021. [PubMed]
  6. Nogami K, Maruyama Y, Sakai-Takemura F, Motohashi N, Elhussieny A, Imamura M, Miyashita S, Ogawa M, Noguchi S, Tamura Y, Kira JI, Aoki Y, Takeda S, Miyagoe-Suzuki Y: Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.Hum Mol Genet. 30(11):1006-1019, 2021. [PubMed]
  7. Takizawa H, Takeshita E, Sato M, Shimizu-Motohashi Y, Ishiyama A, Mori-Yoshimura M, Takahashi Y, Komaki H, Aoki Y: Highly sensitive screening of antisense sequences for different types of DMD mutations in patients' urine-derived cells.J Neurol Sci. 423:117337, 2021. [PubMed]
  8. Tone Y, Mamchaoui K, Tsoumpra MK, Hashimoto Y, Terada R, Maruyama R, Gait MJ, Arzumanov AA, McClorey G, Imamura M, Takeda S, Yokota T, Wood MJA, Mouly V, Aoki Y: Immortalized Canine Dystrophic Myoblast Cell Lines for Development of Peptide-Conjugated Splice-Switching Oligonucleotides.Nucleic Acid Ther. 31(2):172-181, 2021. [PubMed]
  9. Ito N, Miyagoe-Suzuki Y, Takeda S, Kudo A: Periostin Is Required for the Maintenance of Muscle Fibers during Muscle Regeneration. Int J Mol Sci. 22(7):3627, 2021. [PubMed]


  1. Matsuzaka Y, Tanihata J, Ooshima Y, Yamada D, Sekiguchi M, Miyatake S, Aoki Y, Terumitsu M, Yashiro R, Komaki H, Ishiyama A, Oya Y, Inoue YU, Inoue T, Takeda S, Hashido K: The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice. BMC Med. 18(1):343, 2020. [PubMed]
  2. Nakada S, Yamashita Y, Machida S, Miyagoe-Suzuki Y, Arikawa-Hirasawa E: Perlecan facilitates neuronal nitric oxide synthase delocalization in denervation-induced muscle atrophy. Cells.2020 Nov 23;9(11):2524. [PubMed]
  3. Sugihara H, Kimura K, Yamanouchi K, Teramoto N, Okano T, Daimon M, Morita H, Takenaka K, Shiga T, Tanihata J, Aoki Y, Inoue-Nagamura T, Yotsuyanagi H, Komuro I: Age-Dependent Echocardiographic and Pathologic Findings in a Rat Model with Duchenne Muscular Dystrophy Generated by CRISPR/Cas9 Genome Editing. Int Heart J. 61(6):1279-1284, 2020. [PubMed]
  4. van Westering TLE, Johansson HJ, Hanson B, Coenen-Stass AML, Lomonosova Y, Tanihata J, Motohashi N , Yokota T , Takeda S, Lehtiö J, Wood MJA, El Andaloussi S, Aoki Y , Roberts TC: Mutation-independent Proteomic Signatures of Pathological Progression in Murine Models of Duchenne Muscular Dystrophy. Mol Cell Proteomics. 19(12):2047-2068, 2020. [PubMed]
  5. Kitazawa M, Hayashi S, Imamura M , Takeda S, Oishi Y, Kaneko-Ishino T, Ishino F: Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes. Development. 2020 Sep 2;147(21) [PubMed]
  6. Nogami K , Maruyama Y , Elhussieny A , Sakai-Takemura F , Tanihata J , Kira J, Miyagoe-Suzuki Y , Takeda S: iNOS is not responsible for RyR1 S-nitrosylation in mdx mice with truncated dystrophin. BMC Musculoskeletal Disorders.2020 Jul 21;21(1):479. [PubMed]
  7. Hara Y , Mizobe Y , Inoue YU, Hashimoto Y , Motohashi N , Masaki Y, Seio K, Takeda S, Nagata T, Wood MJA, Inoue T, Aoki Y : Novel EGFP reporter cell and mouse models for sensitive imaging and quantification of exon skipping. Sci Rep. 10(1):10110, 2020. [PubMed]
  8. Komaki R, Hashimoto Y , Mori-Yoshimura M, Oya Y, Takizawa H , Minami N, Nishino I, Aoki Y , Takahashi Y: Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report. J Hum Genet. 65(10):903-909, 2020. [PubMed]
  9. Morioka S, Sakaguchi H, Mohri H, Taniguchi-Ikeda M, Kanagawa M, Suzuki T, Miyagoe-Suzuki Y , Toda T, Saito N, Ueyama T: Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy. PLoS Genetics. 2020 May 26;16(5):e1008826. [PubMed]
  10. Sakai-Takemura F , Nogami K , Elhussieny A , Kawabata K, Maruyama Y , Hashimoto N, Takeda S, Miyagoe-Suzuki Y : Prostaglandin EP2 receptor downstream of NOTCH signaling inhibits differentiation of human skeletal muscle progenitors in differentiation conditions. Communications Biology. 2020 Apr 20;3(1):182. [PubMed]
  11. Tsoumpra MK , Sawatsubashi S, Imamura M , Fukumoto S, Takeda S, Matsumoto T, Aoki Y : Dystrobrevin alpha gene is a direct target of the vitamin D receptor in muscle. J Mol Endocrinol. 64(3):195-208, 2020. [PubMed]


  1. Sato M, Shiba N, Miyazaki D, Shiba Y, Echigoya Y, Yokota T, Takizawa H, Aoki Y, Takeda S, Nakamura A: Amelioration of intracellular Ca2+ regulation by exon-45 skipping in Duchenne muscular dystrophy-induced pluripotent stem cell-derived cardiomyocytes. Biochem Biophys Res Commun. 26;520(1):179-185, Nov, 2019
  2. Echigoya Y, Lim KRQ, Melo D, Bao B, Trieu N, Mizobe Y, Maruyama R, Mamchaoui K, Tanihata J, Aoki Y, Takeda S, Mouly V, Duddy W, Yokota T: Exons 45-55 Skipping Using Mutation-Tailored Cocktails of Antisense Morpholinos in the DMD Gene. Mol Ther. 6;27(11):2005-2017, 2019
  3. Kuhn J, Klein PM, Danaf N Al, Nordin JZ, Reinhard S, Loy DM, Hohn M, Andaloussi S El, Lamb DC, Wagner E, Aoki Y, Lehto T, Lachelt U: Supramolecular Assembly of Aminoethylene-Lipopeptide PMO Conjugates into RNA Splice-Switching Nanomicelles. Advanced Functional Materials. 29(48):1906432, 2019
  4. Motohashi N, Uezumi A, Asakura A, Ikemoto-Uezumi M, Mori S, Mizunoe Y, Takashima R, Miyagoe-Suzuki Y, Takeda S, Shigemoto K: Tbx1 regulates inherited metabolic and myogenic abilities of progenitor cells derived from slow- and fast-type muscle. Cell Death Differ. 26(6):1024-1036, 2019
  5. Takizawa H, Hara Y, Mizobe Y, Ohno T, Suzuki S, Inoue K, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Hoshino M, Komaki H, Takeda S, Aoki Y: Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride. Sci Rep. 9(1): 3807, Mar, 2019
  6. Miyatake S, Mizobe Y, Tsoumpra MK, Lim KRQ, Hara Y, Shabanpoor F, Yokota T, Takeda S, Aoki Y: Scavenger Receptor Class A1 Mediates Uptake of Morpholino Antisense Oligonucleotide into Dystrophic Skeletal Muscle. Mol Ther. Nucleic acids. 14: 520-535, Mar, 2019
  7. Hosokawa M, Takeuchi A, Tanihata J, Iida K, Takeda S, Hagiwara M: Loss of RNA-Binding Protein Sfpq Causes Long-Gene Transcriptopathy in Skeletal Muscle and Severe Muscle Mass Reduction with Metabolic Myopathy. iScience. 13: 229-242, Mar, 2019
  8. Hirata Y, Nomura K, Senga Y, Okada Y, Kobayashi K, Okamoto S, Minokoshi Y, Imamura M, Takeda S, Hosooka T, Ogawa W: Hyperglycemia induces skeletal muscle atrophy via a WWP1-KLF15 axis. JCI Insight. 4(4), eCollection 2019 Feb 21, 2019
  9. Lim KRQ, Echigoya Y, Nagata T, Kuraoka M, Kobayashi M, Aoki Y, Partridge T, Maruyama R, Takeda S, Yokota T: Efficacy of Multi-exon Skipping Treatment in Duchenne Muscular Dystrophy Dog Model Neonates. Mol Ther. 27(1): 76-86, Jan, 2019
  10. Shibasaki H, Imamura M, Arima S, Tanihata J, Kuraoka M, Matsuzaka Y, Uchiumi F, Tanuma SI, Takeda S: Characterization of a novel microRNA, miR-188, elevated in serum of muscular dystrophy dog model. PLoS One. 14(1): e0211597, Jan, 2019
  11. Masaki Y, Yamamoto K, Inde T, Yoshida K, Maruyama A, Nagata T, Tanihata J, Takeda S, Sekine M, Seio K: Synthesis of 2'-O-(N-methylcarbamoylethyl) 5-methyl-2-thiouridine and its application to splice-switching oligonucleotides. Bioorg Med Chem Lett. 29(2): 160-163, Jan, 2019


  1. Watanabe N, Nagata T, Satou Y, Masuda S, Saito T, Kitagawa H, Komaki H, Takagaki K, Takeda S: NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy. Mol Ther Nucleic Acids. 13: 442-449, Dec, 2018
  2. Kameyama T, Ohuchi K, Funato M, Ando S, Inagaki S, Sato A, Seki J, Kawase C, Tsuruma K, Nishino I, Nakamura S, Shimazawa M, Saito T, Takeda S, Kaneko H, Hara H: Efficacy of Prednisolone in Generated Myotubes Derived From Fibroblasts of Duchenne Muscular Dystrophy Patients. Front Pharmacol. 9: 1402, eCollection 2018 Dec 3, 2018
  3. Tanihata J, Nagata T, Ito N, Saito T, Nakamura A, Minamisawa S, Aoki Y, Ruegg UT, Takeda S: Truncated dystrophin ameliorates the dystrophic phenotype of mdx mice by reducing sarcolipin-mediated SERCA inhibition. Biochem Biophys Res Commun. 505(1): 51-59, Oct, 2018
  4. Ito N, Ruegg UT, Takeda S: ATP-Induced Increase in Intracellular Calcium Levels and Subsequent Activation of mTOR as Regulators of Skeletal Muscle Hypertrophy. Int J Mol Sci. 19(9), Sep, 2018
  5. Lee J, Echigoya Y, Duddy W, Saito T, Aoki Y, Takeda S, Yokota T: Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts. PLoS One. 13(5): e0197084, May, 2019
  6. Sakai-Takemura F, Narita A, Masuda S, Wakamatsu T, Watanabe N, Nishiyama T, Nogami K, Blanc M, Takeda S, Miyagoe-Suzuki Y: Premyogenic progenitors derived from human pluripotent stem cells expand in floating culture and differentiate into transplantable myogenic progenitors. Sci Rep. 8(1): 6555, Apr, 2018
  7. Komaki H, Nagata T, Saito T, Masuda S, Takeshita E, Sasaki M, Tachimori H, Nakamura H, Aoki Y, Takeda S: Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy. Sci Transl Med. 10(437), Apr, 2018


  1. Maruyama R, Echigoya Y, Caluseriu O, Aoki Y, Takeda S, Yokota T: Systemic Delivery of Morpholinos to Skip Multiple Exons in a Dog Model of Duchenne Muscular Dystrophy. Methods Mol Biol. 1565: 201-213, 2017
  2. Echigoya Y, Nakamura A, Nagata T, Urasawa N, Lim KR, Trieu N, Panesar D, Kuraoka M, Moulton HM, Saito T, Aoki Y, Iversen P, Sazani P, Kole R, Maruyama R, Partridge T, Takeda S, Yokota T: Effects of systemic multiexon skipping with peptide-conjugated morpholinos in the heart of a dog model of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 114 (16): 4213-4218, 2017
  3. Ito N, Kii I, Shimizu N, Tanaka H, Takeda S: Direct reprogramming of fibroblasts into skeletal muscle progenitor cells by transcription factors enriched in undifferentiated subpopulation of satellite cells. Sci Rep. 7 (8097), 2017
  4. Wada E, Tanihata J, Iwamura A, Takeda S, Hayashi YK, Matsuda R: Treatment with the anti-IL-6 receptor antibody attenuates muscular dystrophy via promoting skeletal muscle regeneration in dystrophin-/utrophin-deficient mice. Skelet Muscle. 7 (1), 2017
  5. Echigoya Y, Lim KRQ, Trieu N, Bao B, Miskew Nichols B, Vila MC, Novak JS, Hara Y, Lee J, Touznik A, Mamchaoui K, Aoki Y, Takeda S, Nagaraju K, Mouly V, Maruyama R, Duddy W, Yokota T: Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy. Mol Ther. 25 (11): 2561-2572, 2017
  6. Tailhades J, Takizawa H, Gait MJ, Wellings DA, Wade JD, Aoki Y, Shabanpoor F: Solid-Phase Synthesis of Difficult Purine-Rich PNAs through Selective Hmb Incorporation: Application to the Total Synthesis of Cell Penetrating Peptide-PNAs. Front Chem. 5 (81), 2017
  7. Takeuchi F, Komaki H, Yamagata Z, Maruo K, Rodger S, Kirschner J, Kubota T, Kimura E, Takeda S, Gramsch K, Vry J, Bushby K, Lochmuller H, Wada K, Nakamura H: A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: implications of early diagnosis. Neuromuscul Disord. 27 (10): 894-904, 2017
  8. Yoshizawa T, Mizumoto S, Takahashi Y, Shimada S, Sugahara K, Nakayama J, Takeda S, Nomura Y, Nitahara-Kasahara Y, Okada T, Matsumoto K, Yamada S, Kosho T: Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency. Glycobiology. 28 (2): 80-89, 2018
  9. Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V: Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. J Neurol Neurosurg Psychiatry. 2018 [Epub ahead of print]
  10. Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AG, Varela MA Sathyaprakash C, Scaber J, Barbagallo P, Vader P, Mager I, Ezzat K, Turner MR, Ito N, Gasco S, Ohbayashi N, El Andaloussi S, Takeda S, Fukuda M, Talbot K, Wood MJ: C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia. Brain. 140 (4): 887-897, 2017
  11. Miyagoe-Suzuki Y, Nishiyama T, Nakamura M, Narita A, Takemura F, Masuda S, Minami N, Murayama K, Komaki H, Goto Y, Takeda S: Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. Stem Cells Int. 7906843, 9 pages, 2017
  12. Hyzewicz J, Tanihata J, Kuraoka M, Nitahara-Kasahara Y, Beylier T, Ruegg UT, Vater A, Takeda S: Low-Intensity Training and the C5a Complement Antagonist NOX-D21 Rescue the mdx Phenotype through Modulation of Inflammation. Am J Pathol. 187(5); 1147-1161, 2017


  1. Matsuzaka Y, Tanihata J, Komaki H, Ishiyama A, Oya Y, Ruegg U, Takeda SI, Hashido K: Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice. PLoS One. 11(12): e0167811
  2. Vila MC, Rayavarapu S, Hogarth MW, Van der Meulen JH, Horn A, Defour A, Takeda S, Brown KJ, Hathout Y, Nagaraju K, Jaiswal JK: Mitochondria mediate cell membrane repair and contribute to Duchenne muscular dystrophy. Cell Death Differ. 2016 Nov 11. doi: 10.1038/cdd.2016.127.
  3. Suzuki H, Aoki Y, Kameyama T, Saito T, Masuda S, Tanihata J, Nagata T, Mayeda A, Takeda S, Tsukahara T: Endogenous Multiple Exon Skipping and Back-Splicing at the DMD Mutation Hotspot. Int J Mol Sci. 17: E1722, 2016
  4. Takeuchi F, Komaki H, Nakamura H, Yonemoto N, Kashiwabara K, Kimura E, Takeda S: Trends in steroid therapy for Duchenne muscular dystrophy in Japan. Muscle Nerve. 54: 673-680, 2016
  5. Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Diaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmuller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S1, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K ; Jain COS Consortium: The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet. 2(4): e89, eCollection 2016
  6. Uezumi A, Nakatani M, Ikemoto-Uezumi M, Yamamoto N, Morita M, Yamaguchi A, Yamada H, Kasai T, Masuda S, Narita A, Miyagoe-Suzuki Y, Takeda S, Fukada S, Nishino I, Tsuchida K: Cell-Surface Protein Profiling Identifies Distinctive Markers of Progenitor Cells in Human Skeletal Muscle. Stem Cell Reports. 7: 263-278, 2016
  7. Nakamura A, Fueki N, Shiba N, Motoki H, Miyazaki D, Nishizawa H, Echigoya Y, Yokota T, Aoki Y, Takeda S: Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. J Hum Genet. 61: 663-667, 2016
  8. Shimizu R, Ogata K, Tamaura A, Kimura E, Ohata M, Takeshita E, Nakamura H, Takeda S, Komaki H: Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network. BMC Health Serv Res. 16:241, 2016
  9. Miskew Nichols B, Aoki Y, Kuraoka M, Lee JJ, Takeda S, Yokota T: Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy. J Vis Exp. 24: 111, 2016
  10. Ito N, Shimizu N, Tanaka H, Takeda S: Enhancement of satellite cell transplantation efficiency by leukemia inhibitory factor. J Neuromuscul Dis. 3: 201-207, 2016
  11. Shimbo M, Kudo T, Hamada M, Jeon H, Imamura Y, Asano K, Okada R, Tsunakawa Y, Mizuno S, Yagami K, Ishikawa C, Li H, Shiga T, Ishida J, Hamada J, Murata K, Ishimaru T, Hashimoto M, Fukamizu A, Yamane M, Ikawa M, Morita H, Shinohara M, Asahara H, Akiyama T, Akiyama N, Sasanuma H, Yoshida N, Zhou R, Wang YY, Ito T, Kokubu Y, Noguchi TA, Ishimine H, Kurisaki A, Shiba D, Mizuno H, Shirakawa M, Ito N, Takeda S, Takahashi S: Ground-based assessment of JAXA mouse habitat cage unit by mouse phenotypic studies. Exp Anim. 65: 175-87, 2016
  12. Kimura K, Morita H, Daimon M, Horio M, Kawata T, Nakao T, Hirokawa M, Kitao R, Watanabe D, Komori T, Nagata T, Takeda S, Komaki H, Segawa K, Nakajima T, Takenaka K, Komuro I: Utility of Cystatin C for Estimating Glomerular Filtration Rate in Patients With Muscular Dystrophy. Int Heart J. 57: 386-8, 2016
  13. Kuraoka M, Kimura E, Nagata T, Okada T, Aoki Y, Tachimori H, Yonemoto N, Imamura M, Takeda S: Serum Osteopontin as a Novel Biomarker for Muscle Regeneration in Duchenne Muscular Dystrophy. Am J Pathol. 186:1302-1312, 2016


  1. Ezzat K, Aoki Y, Koo T, McClorey G, Benner L, Coenen-Stass A, O'Donovan L, Lehto T, Garcia-Guerra A, Nordin J, Saleh AF, Behlke M, Morris J, Goyenvalle A, Dugovic B, Leumann C, Gordon S, Gait MJ, El Andaloussi S, Wood MJ: Self-Assembly into Nanoparticles Is Essential for Receptor Mediated Uptake of Therapeutic Antisense Oligonucleotides. Nano Lett. 15: 4364-4373, 2015
  2. Yamaguchi M, Watanabe Y, Ohtani T, Uezumi A, Mikami N, Nakamura M, Sato T, Ikawa M, Hoshino M, Tsuchida K, Miyagoe-Suzuki Y, Tsujikawa K, Takeda S, Yamamoto H, Fukada S: Calcitonin Receptor Signaling Inhibits Muscle Stem Cells from Escaping the Quiescent State and the Niche. Cell Rep. 13: 302-314, 2015
  3. Mizuno S, Yoda M, Shimoda M, Tohmonda T, Okada Y, Toyama Y, Takeda S, Nakamura M, Matsumoto M, Horiuchi K: A Disintegrin and Metalloprotease 10 (ADAM10) Is Indispensable for Maintenance of the Muscle Satellite Cell Pool. J Biol Chem. 290: 28456-28464, 2015
  4. Shimizu N, Maruyama T, Yoshikawa N, Matsumiya R, Ma Y, Ito N, Tasaka Y, Kuribara-Souta A, Miyata K, Oike Y, Berger S, Schutz G, Takeda S, Tanaka H: A muscle-liver-fat signalling axis is essential for central control of adaptive adipose remodeling. Nat Commun. 6: 6693, 2015
  5. Hayashiji N, Yuasa S, Miyagoe-Suzuki Y, Hara M, Ito N, Hashimoto H, Kusumoto D, Seki T, Tohyama S, Kodaira M, Kunitomi A, Kashimura S, Takei M, Saito Y, Okata S, Egashira T, Endo J, Sasaoka T, Takeda S, Fukuda K: G-CSF supports long-term muscle regeneration in mouse models of muscular dystrophy. Nat Commun. 6: 6745, 2015
  6. Imamura M, Nakamura A, Mannen H, Takeda S: Characterization of WWP1 protein expression in skeletal muscle of muscular dystrophy chickens. J Biochem. 159: 171-179, 2015
  7. Domi T, Porrello E, Velardo D, Capotondo A, Biffi A, Tonlorenzi R, Amadio S, Ambrosi A, Miyagoe-Suzuki Y, Takeda S, Ruegg MA, Previtali SC: Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. Skelet Muscle. 5: 30, 2015
  8. Kimura K, Morita H, Daimon M, Kawata T, Nakao T, Lee SL, Hirokawa M, Ebihara A, Nakajima T, Ozawa T, Yonemochi Y, Aida I, Motoyoshi Y, Mikata T, Uchida I, Komori T, Kitao R, Nagata T, Takeda S, Komaki H, Segawa K, Takenaka K, Komuro I: Prognostic impact of venous thromboembolism in patients with Duchenne muscular dystrophy: Prospective multicenter 5-year cohort study. Int J Cardiol. 191: 178-180, 2015
  9. Ishii K, Suzuki N, Mabuchi Y, Ito N, Kikura N, Fukada SI, Okano H, Takeda S, Akazawa C: Muscle Satellite Cell Protein Teneurin-4 Regulates Differentiation During Muscle Regeneration. Stem Cells. 33: 3017-3027, 2015
  10. Shiba N, Miyazaki D, Yoshizawa T, Fukushima K, Shiba Y, Inaba Y, Imamura M, Takeda S, Koike K, Nakamura A: Differential roles of MMP-9 in early and late stages of dystrophic muscles in a mouse model of Duchenne muscular dystrophy. Biochim Biophys Acta. 1852: 2170-2182, 2015