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Select item 108648071.

Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB

Melania Scarcella, Gianluca Scerra, Mariangela Ciampa, Marianna Caterino, Michele Costanzo, Laura Rinaldi, Antonio Feliciello, Serenella Anzilotti, Chiara Fiorentino, Maurizio Renna, Margherita Ruoppolo, Luigi Michele Pavone, Massimo D’Agostino, Valeria De Pasquale

iScience. 2024 Mar 15; 27(3): 108959. Published online 2024 Jan 29. doi: 10.1016/j.isci.2024.108959

PMCID:: PMC10864807

Abstract Article PDF–7.3M

Select item 105509792.

Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB

Ralitsa Petrova, Abhijeet R. Patil, Vivian Trinh, Kathryn E. McElroy, Minoti Bhakta, Jason Tien, David S. Wilson, Liling Warren, Jennifer R. Stratton

Sci Rep. 2023; 13: 16699. Published online 2023 Oct 4. doi: 10.1038/s41598-023-42431-4

PMCID:: PMC10550979

Abstract Article PDF–3.6M

Select item 98517423.

Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector

Courtney J Rouse, Kimberley Hawkins, Nadia Kabbej, Justin Dalugdug, Aishwarya Kunta, Mi-Jung Kim, Shinichi Someya, Zachary Herbst, Michael Gelb, Isabella Dinelli, Elizabeth Butterworth, Darin J Falk, Erinn Rosenkrantz, Hamza Elmohd, Hamid Khaledi, Samar Mowafy, Frederick Ashby, Coy D Heldermon

Hum Mol Genet. 2023 Feb 1; 32(3): 417–430. Published online 2022 Aug 23. doi: 10.1093/hmg/ddac209

PMCID:: PMC9851742

Abstract Article PDF–1.7M

Select item 93640354.

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 81958485.

Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome

Shih-hsin Kan, Ibrahim Elsharkawi, Steven Q. Le, Heather Prill, Linley Mangini, Jonathan D. Cooper, Roger Lawrence, Mark S. Sands, Brett E. Crawford, Patricia I. Dickson

Mol Genet Metab. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Mol Genet Metab. 2021 Jun; 133(2): 185–192. Published online 2021 Mar 31. doi: 10.1016/j.ymgme.2021.03.013

PMCID:: PMC8195848

Abstract Article PDF–1.5M

Select item 72369836.

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

Maria Paola Belfiore, Francesca Iacobellis, Emma Acampora, Martina Caiazza, Marta Rubino, Emanuele Monda, Maria Rosaria Magaldi, Antonietta Tarallo, Marcella Sasso, Valeria De Pasquale, Roberto Grassi, Salvatore Cappabianca, Paolo Calabrò, Simona Fecarotta, Salvatore Esposito, Giovanni Esposito, Antonio Pisani, Luigi Michele Pavone, Giancarlo Parenti, Giuseppe Limongelli

PLoS One. 2020; 15(5): e0233050. Published online 2020 May 19. doi: 10.1371/journal.pone.0233050

PMCID:: PMC7236983

Abstract Article PDF–1.5M

Select item 72270287.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Abstract Article PDF–5.4M

Select item 67301928.

Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum

Arnaud Cressant, Nathalie Desmaris, Lucie Verot, Thomas Bréjot, Roseline Froissart, Marie-T. Vanier, Irène Maire, Jean Michel Heard

J Neurosci. 2004 Nov 10; 24(45): 10229–10239. doi: 10.1523/JNEUROSCI.3558-04.2004

PMCID:: PMC6730192

Abstract Article PDF–789K

Select item 62980409.

Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors

Hyeonwoo Kim, Christiane D. Wrann, Mark Jedrychowski, Sara Vidoni, Yukiko Kitase, Kenichi Nagano, Chenhe Zhou, Joshua Chou, Virginia-Jeni A. Parkman, Scott J. Novick, Timothy S. Strutzenberg, Bruce D. Pascal, Phuong T. Le, Daniel J. Brooks, Alexander M. Roche, Kaitlyn K. Gerber, Laura Mattheis, Wenjing Chen, Hua Tu, Mary L. Bouxsein, Patrick R. Griffin, Roland Baron, Clifford J. Rosen, Lynda F. Bonewald, Bruce M. Spiegelman

Cell. Author manuscript; available in PMC 2019 Dec 13.

Published in final edited form as: Cell. 2018 Dec 13; 175(7): 1756–1768.e17. doi: 10.1016/j.cell.2018.10.025

Correction in:: Cell. 2019 Jul 11; 178(2): 507–508.

PMCID:: PMC6298040

Abstract Article PDF–1.2M

Select item 610370610.

Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency

Parisa Lotfi, Dennis Y. Tse, Alberto Di Ronza, Michelle L. Seymour, Giuseppe Martano, Jonathan D. Cooper, Fred A. Pereira, Maria Passafaro, Samuel M. Wu, Marco Sardiello

Autophagy. 2018; 14(8): 1419–1434. Published online 2018 Jul 23. doi: 10.1080/15548627.2018.1474313

PMCID:: PMC6103706

Abstract Article PDF–3.0M

Select item 570372011.

Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease

Heli Jokela, Janne Hakkarainen, Laura Kätkänaho, Pirjo Pakarinen, Suvi T. Ruohonen, Manuel Tena-Sempere, Fu-Ping Zhang, Matti Poutanen

Sci Rep. 2017; 7: 16406. Published online 2017 Nov 27. doi: 10.1038/s41598-017-16618-5

PMCID:: PMC5703720

Abstract Article PDF–10M

Select item 466085112.

Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB

Dennis Y. Tse, Parisa Lotfi, David L. Simons, Marco Sardiello, Samuel M. Wu

Sci Rep. 2015; 5: 17143. Published online 2015 Nov 26. doi: 10.1038/srep17143

PMCID:: PMC4660851

Abstract Article PDF–2.6M

Select item 449302713.

The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure

Gabriele Giacomo Schiattarella, Giuliana Cerulo, Valeria De Pasquale, Pasquale Cocchiaro, Orlando Paciello, Luigi Avallone, Maria Paola Belfiore, Francesca Iacobellis, Daniele Di Napoli, Fabio Magliulo, Cinzia Perrino, Bruno Trimarco, Giovanni Esposito, Paola Di Natale, Luigi Michele Pavone

PLoS One. 2015; 10(7): e0131662. Published online 2015 Jul 6. doi: 10.1371/journal.pone.0131662

PMCID:: PMC4493027

Abstract Article PDF–21M

Select item 420567114.

Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

Shih-hsin Kan, Mika Aoyagi-Scharber, Steven Q. Le, Jon Vincelette, Kazuhiro Ohmi, Sherry Bullens, Daniel J. Wendt, Terri M. Christianson, Pascale M. N. Tiger, Jillian R. Brown, Roger Lawrence, Bryan K. Yip, John Holtzinger, Anil Bagri, Danielle Crippen-Harmon, Kristen N. Vondrak, Zhi Chen, Chuck M. Hague, Josh C. Woloszynek, Diana S. Cheung, Katherine A. Webster, Evan G. Adintori, Melanie J. Lo, Wesley Wong, Paul A. Fitzpatrick, Jonathan H. LeBowitz, Brett E. Crawford, Stuart Bunting, Patricia I. Dickson, Elizabeth F. Neufeld

Proc Natl Acad Sci U S A. 2014 Oct 14; 111(41): 14870–14875. Published online 2014 Sep 29. doi: 10.1073/pnas.1416660111

PMCID:: PMC4205671

Abstract Article PDF–1.1M

Select item 383697815.

Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood

Bartholomew J. Naughton, F. Jason Duncan, Darren Murrey, Tierra Ware, Aaron Meadows, Douglas M. McCarty, Haiyan Fu

PLoS One. 2013; 8(11): e80142. Published online 2013 Nov 21. doi: 10.1371/journal.pone.0080142

PMCID:: PMC3836978

Abstract Article PDF–12M

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 345793517.

Peripheral Nervous System Neuropathology and Progressive Sensory Impairments in a Mouse Model of Mucopolysaccharidosis IIIB

Haiyan Fu, Julianne D. Bartz, Robert L. Stephens, Jr, Douglas M. McCarty

PLoS One. 2012; 7(9): e45992. Published online 2012 Sep 25. doi: 10.1371/journal.pone.0045992

PMCID:: PMC3457935

Abstract Article PDF–3.7M

Select item 338306518.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

Abstract Article PDF–2.0M

Select item 333878119.

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

PMCID:: PMC3338781

Abstract Article PDF–13M

Select item 321258120.

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

Abstract Article PDF–1.0M

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