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

原著

2020年7月1日現在

2019

  1. Takashi Y, Kosako H, Sawatsubashi S, Kinoshita Y, Ito N, Tsoumpra MK, Nangaku M, Abe M, Matsuhisa M, Kato S, Matsumoto T, Fukumoto S: Activation of unliganded FGF receptor by extracellular phosphate potentiates proteolytic protection of FGF23 by its O-glycosylation. Proc Natl Acad Sci U S A. 16 (11418-11427), 2019
  2. 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
  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. 2019
  4. 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
  5. 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
  6. 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, Apr, 2020
  7. 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. Commun Biol. 3(1):182, 2020
  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. Journal of Human Genetics. 2020

2018

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. Kuraoka M, Nitahara-Kasahara Y, Tachimori H, Kato N, Shibasaki H, Shin A, Aoki Y, Kimura E, Takeda S: Accelerometric outcomes of motor function related to clinical evaluations and muscle involvement in dystrophic dogs. PLoS One. 13(12): e0208415 Dec, 2018
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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

2017

  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

2016

  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

2015

  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