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Items: 1 to 20 of 46

1.
Efficacy of a Combination Therapy with Laronidase and Genistein in Treating Mucopolysaccharidosis Type I in a Mouse Model
Marcelina Malinowska, Wioletta Nowicka, Anna Kloska, Grzegorz Węgrzyn, Joanna Jakóbkiewicz-Banecka
Int J Mol Sci. 2024 Feb; 25(4): 2371. Published online 2024 Feb 17. doi: 10.3390/ijms25042371
PMCID:
PMC10889377
AbstractArticlePDF–2.6M
2.
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models
Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P. Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev
Mol Genet Metab Rep. 2023 Dec; 37: 101011. Published online 2023 Oct 11. doi: 10.1016/j.ymgmr.2023.101011
PMCID:
PMC10694777
AbstractArticlePDF–1.8M
3.
Mapping brain networks in MPS I mice and their restoration following gene therapy
Wei Zhu, Li Ou, Lin Zhang, Isaac H. Clark, Ying Zhang, Xiao-Hong Zhu, Chester B. Whitley, Perry B. Hackett, Walter C. Low, Wei Chen
Sci Rep. 2023; 13: 12716. Published online 2023 Aug 5. doi: 10.1038/s41598-023-39939-0
PMCID:
PMC10404260
AbstractArticlePDF–2.4M
4.
Actin Cytoskeleton Polymerization and Focal Adhesion as Important Factors in the Pathomechanism and Potential Targets of Mucopolysaccharidosis Treatment
Lidia Gaffke, Estera Rintz, Karolina Pierzynowska, Grzegorz Węgrzyn
Cells. 2023 Jul; 12(13): 1782. Published online 2023 Jul 5. doi: 10.3390/cells12131782
PMCID:
PMC10341097
AbstractArticlePDF–4.5M
5.
AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice
Jiaming Wang, Yue Zhang, Craig A. Mendonca, Onur Yukselen, Khaja Muneeruddin, Lingzhi Ren, Jialing Liang, Chen Zhou, Jun Xie, Jia Li, Zhong Jiang, Alper Kucukural, Scott A. Shaffer, Guangping Gao, Dan Wang
Nature. Author manuscript; available in PMC 2023 Apr 1.
Published in final edited form as: Nature. 2022 Apr; 604(7905): 343–348. Published online 2022 Mar 23. doi: 10.1038/s41586-022-04533-3
PMCID:
PMC9446716
AbstractArticlePDF–2.2M
6.
Germline saturation mutagenesis induces skeletal phenotypes in mice
Jonathan J Rios, Kristin Denton, Jamie Russell, Julia Kozlitina, Carlos R Ferreira, Amy F Lewanda, Joshua E Mayfield, Eva Moresco, Sara Ludwig, Miao Tang, Xiaohong Li, Stephen Lyon, Anas Khanshour, Nandina Paria, Aysha Khalid, Yang Li, Xudong Xie, Jian Q Feng, Qian Xu, Yongbo Lu, Robert E Hammer, Carol A Wise, Bruce Beutler
J Bone Miner Res. Author manuscript; available in PMC 2022 Aug 1.
Published in final edited form as: J Bone Miner Res. 2021 Aug; 36(8): 1548–1565. Published online 2021 May 10. doi: 10.1002/jbmr.4323
PMCID:
PMC8862308
AbstractArticlePDF–2.5M
7.
Self-inactivating, all-in-one AAV vectors for precision Cas9 genome editing via homology-directed repair in vivo
Raed Ibraheim, Phillip W. L. Tai, Aamir Mir, Nida Javeed, Jiaming Wang, Tomás C. Rodríguez, Suk Namkung, Samantha Nelson, Eraj Shafiq Khokhar, Esther Mintzer, Stacy Maitland, Zexiang Chen, Yueying Cao, Emmanouela Tsagkaraki, Scot A. Wolfe, Dan Wang, Athma A. Pai, Wen Xue, Guangping Gao, Erik J. Sontheimer
Nat Commun. 2021; 12: 6267. Published online 2021 Nov 1. doi: 10.1038/s41467-021-26518-y
PMCID:
PMC8560862
AbstractArticlePDF–6.1M
8.
In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease
Sourav K. Bose, Brandon M. White, Meghana V. Kashyap, Apeksha Dave, Felix R. De Bie, Haiying Li, Kshitiz Singh, Pallavi Menon, Tiankun Wang, Shiva Teerdhala, Vishal Swaminathan, Heather A. Hartman, Sowmya Jayachandran, Prashant Chandrasekaran, Kiran Musunuru, Rajan Jain, David B. Frank, Philip Zoltick, William H. Peranteau
Nat Commun. 2021; 12: 4291. Published online 2021 Jul 13. doi: 10.1038/s41467-021-24443-8
PMCID:
PMC8277817
AbstractArticlePDF–4.4M
9.
Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex
Gustavo Monteiro Viana, Esteban Alberto Gonzalez, Marcela Maciel Palacio Alvarez, Renan Pelluzzi Cavalheiro, Cinthia Castro do Nascimento, Guilherme Baldo, Vânia D’Almeida, Marcelo Andrade de Lima, Alexey V. Pshezhetsky, Helena Bonciani Nader
Int J Mol Sci. 2020 Feb; 21(4): 1459. Published online 2020 Feb 20. doi: 10.3390/ijms21041459
PMCID:
PMC7073069
AbstractArticlePDF–2.7M
10.
Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I)
Ana Barbosa Mendes, Cinthia Castro do Nascimento, Vânia D’Almeida
PLoS One. 2019; 14(12): e0220429. Published online 2019 Dec 13. doi: 10.1371/journal.pone.0220429
PMCID:
PMC6910675
AbstractArticlePDF–829K
11.
Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I
Natalia Gomez-Ospina, Samantha G. Scharenberg, Nathalie Mostrel, Rasmus O. Bak, Sruthi Mantri, Rolen M. Quadros, Channabasavaiah B. Gurumurthy, Ciaran Lee, Gang Bao, Carlos J. Suarez, Shaukat Khan, Kazuki Sawamoto, Shunji Tomatsu, Nitin Raj, Laura D. Attardi, Laure Aurelian, Matthew H. Porteus
Nat Commun. 2019; 10: 4045. Published online 2019 Sep 6. doi: 10.1038/s41467-019-11962-8
PMCID:
PMC6731271
AbstractArticlePDF–1.2M
12.
Comprehensive evaluation of blood-brain barrier-forming micro-vasculatures: Reference and marker genes with cellular composition
Mei Dai, Yi Lin, Salim S. El-Amouri, Mara Kohls, Dao Pan
PLoS One. 2018; 13(5): e0197379. Published online 2018 May 15. doi: 10.1371/journal.pone.0197379
PMCID:
PMC5953434
AbstractArticlePDF–4.7M
13.
Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1
Elina Makino, Helen Klodnitsky, John Leonard, James Lillie, Troy C. Lund, John Marshall, Jennifer Nietupski, Paul J. Orchard, Weston P. Miller, Clifford Phaneuf, Drew Tietz, Mariet L. Varban, Marissa Donovan, Alexey Belenki
Sci Rep. 2018; 8: 3681. Published online 2018 Feb 27. doi: 10.1038/s41598-018-22078-2
Correction in:
Sci Rep. 2018; 8: 4994.
PMCID:
PMC5829143
AbstractArticlePDF–1.5M
14.
Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I
Isabella Azario, Alice Pievani, Federica Del Priore, Laura Antolini, Ludovica Santi, Alessandro Corsi, Lucia Cardinale, Kazuki Sawamoto, Francyne Kubaski, Bernhard Gentner, Maria Ester Bernardo, Maria Grazia Valsecchi, Mara Riminucci, Shunji Tomatsu, Alessandro Aiuti, Andrea Biondi, Marta Serafini
Sci Rep. 2017; 7: 9473. Published online 2017 Aug 25. doi: 10.1038/s41598-017-09958-9
PMCID:
PMC5573317
AbstractArticlePDF–3.7M
15.
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
16.
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I
Omar Khalid, Moin U. Vera, Philip L. Gordts, N. Matthew Ellinwood, Philip H. Schwartz, Patricia I. Dickson, Jeffrey D. Esko, Raymond Y. Wang
PLoS One. 2016; 11(3): e0150850. Published online 2016 Mar 17. doi: 10.1371/journal.pone.0150850
PMCID:
PMC4795702
AbstractArticlePDF–5.2M
17.
Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model
Sandra D. K. Kingma, Tom Wagemans, Lodewijk IJlst, Jurgen Seppen, Marion J. J. Gijbels, Frits A. Wijburg, Naomi van Vlies
JIMD Rep. 2015; 23: 77–83. Published online 2015 Apr 9. doi: 10.1007/8904_2015_432
PMCID:
PMC4484902
AbstractArticlePDF–300K
18.
A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I
Daniel C Mendez, Alexander E Stover, Anthony D Rangel, David J Brick, Hubert E Nethercott, Marissa A Torres, Omar Khalid, Andrew MS Wong, Jonathan D Cooper, James V Jester, Edwin S Monuki, Cian McGuire, Steven Q Le, Shih-hsin Kan, Patricia I Dickson, Philip H Schwartz
Mol Ther Methods Clin Dev. 2015; 2: 14068. Published online 2015 Feb 11. doi: 10.1038/mtm.2014.68
PMCID:
PMC4449030
AbstractArticlePDF–4.0M
19.
Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I
Alice Pievani, Isabella Azario, Laura Antolini, Tsutomu Shimada, Pravin Patel, Cristina Remoli, Benedetta Rambaldi, Maria Grazia Valsecchi, Mara Riminucci, Andrea Biondi, Shunji Tomatsu, Marta Serafini
Blood. 2015 Mar 5; 125(10): 1662–1671. Prepublished online 2014 Oct 8. doi: 10.1182/blood-2014-06-581207
PMCID:
PMC4351510
AbstractArticle
20.
Assessment of Dysmyelination with RAFFn MRI: Application to Murine MPS I
David Satzer, Christina DiBartolomeo, Michael M. Ritchie, Christine Storino, Timo Liimatainen, Hanne Hakkarainen, Djaudat Idiyatullin, Silvia Mangia, Shalom Michaeli, Ann M. Parr, Walter C. Low
PLoS One. 2015; 10(2): e0116788. Published online 2015 Feb 13. doi: 10.1371/journal.pone.0116788
PMCID:
PMC4334512
AbstractArticlePDF–2.7M

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