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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 106117142.

An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome)

Kari Pollock, Sabrina Noritake, Denise M. Imai, Gabrielle Pastenkos, Marykate Olson, Whitney Cary, Sheng Yang, Fernando A. Fierro, Jeannine White, Justin Graham, Heather Dahlenburg, Karl Johe, Jan A. Nolta

Sci Rep. 2023; 13: 18439. Published online 2023 Oct 27. doi: 10.1038/s41598-023-45178-0

PMCID:: PMC10611714

Abstract Article PDF–2.7M

Select item 102762833.

Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA

Kleopatra Pericleous, Chantelle McIntyre, Maria Fuller

Mol Genet Metab Rep. 2023 Sep; 36: 100985. Published online 2023 Jun 10. doi: 10.1016/j.ymgmr.2023.100985

PMCID:: PMC10276283

Abstract Article PDF–2.7M

Select item 96943934.

Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction

Jenna Magat, Samantha Jones, Brian Baridon, Vishal Agrawal, Hio Wong, Alexander Giaramita, Linley Mangini, Britta Handyside, Catherine Vitelli, Monica Parker, Natasha Yeung, Yu Zhou, Erno Pungor, Ilya Slabodkin, Olivia Gorostiza, Allora Aguilera, Melanie J. Lo, Saida Alcozie, Terri M. Christianson, Pascale M.N. Tiger, Jon Vincelette, Sylvia Fong, Geuncheol Gil, Chuck Hague, Roger Lawrence, Daniel J. Wendt, Jonathan H. Lebowitz, Stuart Bunting, Sherry Bullens, Brett E. Crawford, Sushmita M. Roy, Josh C. Woloszynek

J Biol Chem. 2022 Dec; 298(12): 102625. Published online 2022 Oct 26. doi: 10.1016/j.jbc.2022.102625

PMCID:: PMC9694393

Abstract Article PDF–3.4M

Select item 93640355.

Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation

Miguel Tillo, William C. Lamanna, Chrissa A. Dwyer, Daniel R. Sandoval, Ariane R. Pessentheiner, Norah Al-Azzam, Stéphane Sarrazin, Jon C. Gonzales, Shih-Hsin Kan, Alexander Y. Andreyev, Nicholas Schultheis, Bryan E. Thacker, Charles A. Glass, Patricia I. Dickson, Raymond Y. Wang, Scott B. Selleck, Jeffrey D. Esko, Philip L.S.M. Gordts

J Biol Chem. 2022 Aug; 298(8): 102159. Published online 2022 Jun 22. doi: 10.1016/j.jbc.2022.102159

PMCID:: PMC9364035

Abstract Article PDF–3.2M

Select item 93254726.

Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities

Stephania Assimopoulos, Christopher Hammill, Darren J. Fernandes, Tara Leigh Spencer Noakes, Yu‐Qing Zhou, Lauryl M. J. Nutter, Jacob Ellegood, Evdokia Anagnostou, John G. Sled, Jason P. Lerch

Autism Res. 2022 Jul; 15(7): 1189–1208. Published online 2022 Apr 21. doi: 10.1002/aur.2728

PMCID:: PMC9325472

Abstract Article PDF–3.5M

Select item 81900837.

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

Abstract Article PDF–9.8M

Select item 80701798.

Increased Alveolar Heparan Sulphate and Reduced Pulmonary Surfactant Amount and Function in the Mucopolysaccharidosis IIIA Mouse

Tamara L. Paget, Emma J. Parkinson-Lawrence, Paul J. Trim, Chiara Autilio, Madhuriben H. Panchal, Grielof Koster, Mercedes Echaide, Marten F. Snel, Anthony D. Postle, Janna L. Morrison, Jésus Pérez-Gil, Sandra Orgeig

Cells. 2021 Apr; 10(4): 849. Published online 2021 Apr 8. doi: 10.3390/cells10040849

PMCID:: PMC8070179

Abstract Article PDF–4.0M

Select item 76729549.

Is the eye a window to the brain in Sanfilippo syndrome?

Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson, Kim M. Hemsley

Acta Neuropathol Commun. 2020; 8: 194. Published online 2020 Nov 17. doi: 10.1186/s40478-020-01070-w

PMCID:: PMC7672954

Abstract Article PDF–2.4M

Select item 706456010.

Retinal Degeneration in MPS-IIIA Mouse Model

Daniela Intartaglia, Giuliana Giamundo, Elena Marrocco, Veronica Maffia, Francesco Giuseppe Salierno, Edoardo Nusco, Alessandro Fraldi, Ivan Conte, Nicolina Cristina Sorrentino

Front Cell Dev Biol. 2020; 8: 132. Published online 2020 Mar 4. doi: 10.3389/fcell.2020.00132

PMCID:: PMC7064560

Abstract Article PDF–6.7M

Select item 613650711.

Dynamic Expression of Genes Involved in Proteoglycan/Glycosaminoglycan Metabolism during Skin Development

P. J. E. Uijtdewilligen, E. M. Versteeg, E. M. A. van de Westerlo, J. van der Vlag, W. F. Daamen, T. H. van Kuppevelt

Biomed Res Int. 2018; 2018: 9873471. Published online 2018 Aug 29. doi: 10.1155/2018/9873471

PMCID:: PMC6136507

Abstract Article PDF–838K

Select item 539453412.

Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice

Chrissa A. Dwyer, Samantha L. Scudder, Ying Lin, Lara E. Dozier, Dustin Phan, Nicola J. Allen, Gentry N. Patrick, Jeffrey D. Esko

Sci Rep. 2017; 7: 46576. Published online 2017 Apr 18. doi: 10.1038/srep46576

PMCID:: PMC5394534

Abstract Article PDF–1.6M

Select item 435502013.

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

Björn Kowalewski, Peter Heimann, Theresa Ortkras, Renate Lüllmann-Rauch, Tomo Sawada, Steven U. Walkley, Thomas Dierks, Markus Damme

Hum Mol Genet. 2015 Apr 1; 24(7): 1856–1868. Published online 2014 Dec 1. doi: 10.1093/hmg/ddu603

PMCID:: PMC4355020

Abstract Article PDF–1.9M

Select item 372615814.

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

Virginia Haurigot, Sara Marcó, Albert Ribera, Miguel Garcia, Albert Ruzo, Pilar Villacampa, Eduard Ayuso, Sònia Añor, Anna Andaluz, Mercedes Pineda, Gemma García-Fructuoso, Maria Molas, Luca Maggioni, Sergio Muñoz, Sandra Motas, Jesús Ruberte, Federico Mingozzi, Martí Pumarola, Fatima Bosch

J Clin Invest. 2013 Aug 1; 123(8): 3254–3271. Published online 2013 Jul 1. doi: 10.1172/JCI66778

PMCID:: PMC3726158

Abstract Article PDF–12M

Select item 366231215.

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

Abstract Article PDF–2.0M

Select item 357241016.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 333878117.

Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

Fiona L. Wilkinson, Rebecca J. Holley, Kia J. Langford-Smith, Soumya Badrinath, Aiyin Liao, Alex Langford-Smith, Jonathan D. Cooper, Simon A. Jones, J. Ed Wraith, Rob F. Wynn, Catherine L. R. Merry, Brian W. Bigger

PLoS One. 2012; 7(4): e35787. Published online 2012 Apr 27. doi: 10.1371/journal.pone.0035787