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Items: 20

1.
Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice
Atsushi Imakiire, Hideto Morimoto, Hidehiko Suzuki, Tomomi Masuda, Eiji Yoden, Asuka Inoue, Hiroki Morioka, Takashi Konaka, Ayaka Mori, Ryoji Shirasaka, Ryo Kato, Tohru Hirato, Hiroyuki Sonoda, Kohtaro Minami
Mol Pharm. 2023 Nov 6; 20(11): 5901–5909. Published online 2023 Oct 20. doi: 10.1021/acs.molpharmaceut.3c00736
PMCID:
PMC10630942
AbstractArticlePDF–4.9M
2.
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada
Sci Rep. 2023; 13: 7865. Published online 2023 May 15. doi: 10.1038/s41598-023-34541-w
PMCID:
PMC10185571
AbstractArticlePDF–1.4M
3.
Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy
Francesca Maccari, Laura Rigon, Veronica Mantovani, Fabio Galeotti, Marika Salvalaio, Francesca D’Avanzo, Alessandra Zanetti, Federica Capitani, Orazio Gabrielli, Rosella Tomanin, Nicola Volpi
J Mol Med (Berl) 2022; 100(8): 1169–1179. Published online 2022 Jul 11. doi: 10.1007/s00109-022-02221-3
PMCID:
PMC9329393
AbstractArticlePDF–2.5M
4.
Molecular architecture determines brain delivery of a transferrin receptor–targeted lysosomal enzyme
Annie Arguello, Cathal S. Mahon, Meredith E.K. Calvert, Darren Chan, Jason C. Dugas, Michelle E. Pizzo, Elliot R. Thomsen, Roni Chau, Lorna A. Damo, Joseph Duque, Meng Fang, Tina Giese, Do Jin Kim, Nicholas Liang, Hoang N. Nguyen, Hilda Solanoy, Buyankhishig Tsogtbaatar, Julie C. Ullman, Junhua Wang, Mark S. Dennis, Dolores Diaz, Kannan Gunasekaran, Kirk R. Henne, Joseph W. Lewcock, Pascal E. Sanchez, Matthew D. Troyer, Jeffrey M. Harris, Kimberly Scearce-Levie, Lu Shan, Ryan J. Watts, Robert G. Thorne, Anastasia G. Henry, Mihalis S. Kariolis
J Exp Med. 2022 Mar 7; 219(3): e20211057. Published online 2022 Feb 26. doi: 10.1084/jem.20211057
PMCID:
PMC8932535
AbstractArticlePDF–3.7M
5.
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data
Roberto Giugliani, Ana Maria Martins, Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kimitoshi Nakamura, Hideto Morimoto, Kohtaro Minami, Tatsuyoshi Yamamoto, Mariko Yamaoka, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Mathias Schmidt, Yuji Sato
Int J Mol Sci. 2021 Oct; 22(20): 10938. Published online 2021 Oct 10. doi: 10.3390/ijms222010938
PMCID:
PMC8535651
AbstractArticlePDF–3.2M
6.
Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders
Maria De Risi, Michele Tufano, Filomena Grazia Alvino, Maria Grazia Ferraro, Giulia Torromino, Ylenia Gigante, Jlenia Monfregola, Elena Marrocco, Salvatore Pulcrano, Lea Tunisi, Claudia Lubrano, Dulce Papy-Garcia, Yaakov Tuchman, Alberto Salleo, Francesca Santoro, Gian Carlo Bellenchi, Luigia Cristino, Andrea Ballabio, Alessandro Fraldi, Elvira De Leonibus
Nat Commun. 2021; 12: 3495. Published online 2021 Jun 9. doi: 10.1038/s41467-021-23903-5
PMCID:
PMC8190083
AbstractArticlePDF–9.8M
7.
High-Throughput Liquid Chromatography–Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II
Junhua Wang, Akhil Bhalla, Julie C. Ullman, Meng Fang, Ritesh Ravi, Annie Arguello, Elliot Thomsen, Buyankhishig Tsogtbaatar, Jing L. Guo, Lukas L. Skuja, Jason C. Dugas, Sonnet S. Davis, Suresh B. Poda, Kannan Gunasekaran, Simona Costanzo, Zachary K. Sweeney, Anastasia G. Henry, Jeffrey M. Harris, Kirk R. Henne, Giuseppe Astarita
Int J Mol Sci. 2020 Aug; 21(15): 5449. Published online 2020 Jul 30. doi: 10.3390/ijms21155449
PMCID:
PMC7432392
AbstractArticlePDF–1.0M
8.
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II
Hiroyuki Sonoda, Hideto Morimoto, Eiji Yoden, Yuri Koshimura, Masafumi Kinoshita, Galina Golovina, Haruna Takagi, Ryuji Yamamoto, Kohtaro Minami, Akira Mizoguchi, Katsuhiko Tachibana, Tohru Hirato, Kenichi Takahashi
Mol Ther. 2018 May 2; 26(5): 1366–1374. Published online 2018 Mar 6. doi: 10.1016/j.ymthe.2018.02.032
PMCID:
PMC5993955
AbstractArticlePDF–1.4M
9.
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II
Hélène F. E. Gleitz, Claire O’Leary, Rebecca J. Holley, Brian W. Bigger
PLoS One. 2017; 12(2): e0172435. Published online 2017 Feb 16. doi: 10.1371/journal.pone.0172435
PMCID:
PMC5313159
AbstractArticlePDF–2.0M
10.
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders
Marika Salvalaio, Laura Rigon, Daniela Belletti, Francesca D’Avanzo, Francesca Pederzoli, Barbara Ruozi, Oriano Marin, Maria Angela Vandelli, Flavio Forni, Maurizio Scarpa, Rosella Tomanin, Giovanni Tosi
PLoS One. 2016; 11(5): e0156452. Published online 2016 May 26. doi: 10.1371/journal.pone.0156452
PMCID:
PMC4881964
AbstractArticlePDF–5.0M
11.
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA
Nicolina Cristina Sorrentino, Luca D'Orsi, Irene Sambri, Edoardo Nusco, Ciro Monaco, Carmine Spampanato, Elena Polishchuk, Paola Saccone, Elvira De Leonibus, Andrea Ballabio, Alessandro Fraldi
EMBO Mol Med. 2013 May; 5(5): 675–690. Published online 2013 Apr 9. doi: 10.1002/emmm.201202083
PMCID:
PMC3662312
AbstractArticlePDF–2.0M
12.
CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder
Pericles Calias, Mikhail Papisov, Jing Pan, Nancy Savioli, Vasily Belov, Yan Huang, Jason Lotterhand, Mary Alessandrini, Nan Liu, Alan J. Fischman, Jan L. Powell, Michael W. Heartlein
PLoS One. 2012; 7(1): e30341. Published online 2012 Jan 18. doi: 10.1371/journal.pone.0030341
PMCID:
PMC3261205
AbstractArticlePDF–8.3M
13.
Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B
Kazuhiro Ohmi, Hui-Zhi Zhao, Elizabeth F. Neufeld
PLoS One. 2011; 6(11): e27461. Published online 2011 Nov 9. doi: 10.1371/journal.pone.0027461
Correction in:
PLoS One. 2012; 7(1): 10.1371/annotation/3de78cba-af11-4deb-939a-bf0803592d08.
PMCID:
PMC3212581
AbstractArticlePDF–1.0M
14.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
15.
Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy
Vinicia Assunta Polito, Serena Abbondante, Roman S. Polishchuk, Edoardo Nusco, Rosaria Salvia, Maria Pia Cosma
Hum Mol Genet. 2010 Dec 15; 19(24): 4871–4885. Published online 2010 Sep 27. doi: 10.1093/hmg/ddq420
PMCID:
PMC2989894
AbstractArticlePDF–1002K
16.
Sulfatase modifying factor 1–mediated fibroblast growth factor signaling primes hematopoietic multilineage development
Mario Buono, Ilaria Visigalli, Roberta Bergamasco, Alessandra Biffi, Maria Pia Cosma
J Exp Med. 2010 Aug 2; 207(8): 1647–1660. doi: 10.1084/jem.20091022
PMCID:
PMC2916128
AbstractArticlePDF–4.4M
17.
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice
Vinicia Assunta Polito, Maria Pia Cosma
Am J Hum Genet. 2009 Aug 14; 85(2): 296–301. doi: 10.1016/j.ajhg.2009.07.011
Correction in:
Am J Hum Genet. 2015 May 7; 96(5): 850–851.
PMCID:
PMC2725243
AbstractArticlePDF–968K
18.
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2
Ester Zito, Alessandro Fraldi, Stefano Pepe, Ida Annunziata, Gary Kobinger, Paola Di Natale, Andrea Ballabio, Maria Pia Cosma
EMBO Rep. 2005 Jul; 6(7): 655–660. Published online 2005 Jun 17. doi: 10.1038/sj.embor.7400454
Correction in:
EMBO Rep. 2016 Dec; 17(12): 1901.
PMCID:
PMC1369113
AbstractArticlePDF–182K
19.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M
20.
Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes
Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki
Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100
PMCID:
PMC310980
AbstractArticlePDF–1.4M

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