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Select item 107397931.

Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease

Marlena Rohm, Gabriele Russo, Xavier Helluy, Martijn Froeling, Vincent Umathum, Nicolina Südkamp, Denise Manahan-Vaughan, Robert Rehmann, Johannes Forsting, Frank Jacobsen, Andreas Roos, Yoon Shin, Anne Schänzer, Matthias Vorgerd, Lara Schlaffke

Sci Rep. 2023; 13: 22822. Published online 2023 Dec 20. doi: 10.1038/s41598-023-49971-9

PMCID:: PMC10739793

Abstract Article PDF–6.3M

Select item 102973642.

Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model

Marlena Rohm, Leon Volke, Lara Schlaffke, Robert Rehmann, Nicolina Südkamp, Andreas Roos, Anne Schänzer, Andreas Hentschel, Matthias Vorgerd

Cells. 2023 Jun; 12(12): 1602. Published online 2023 Jun 11. doi: 10.3390/cells12121602

PMCID:: PMC10297364

Abstract Article PDF–6.2M

Select item 101216953.

Degeneration of muscle spindles in a murine model of Pompe disease

Bridgette Watkins, Jürgen Schultheiß, Andi Rafuna, Stefan Hintze, Peter Meinke, Benedikt Schoser, Stephan Kröger

Sci Rep. 2023; 13: 6555. Published online 2023 Apr 21. doi: 10.1038/s41598-023-33543-y

Correction in:: Sci Rep. 2024; 14: 13394.

PMCID:: PMC10121695

Abstract Article PDF–4.6M

Select item 97510864.

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang

Sci Rep. 2022; 12: 21576. Published online 2022 Dec 14. doi: 10.1038/s41598-022-25914-8

PMCID:: PMC9751086

Abstract Article PDF–3.9M

Select item 91815995.

Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies

Araceli Aguilar-González, Juan Elías González-Correa, Eliana Barriocanal-Casado, Iris Ramos-Hernández, Miguel A. Lerma-Juárez, Sara Greco, Juan José Rodríguez-Sevilla, Francisco Javier Molina-Estévez, Valle Montalvo-Romeral, Giuseppe Ronzitti, Rosario María Sánchez-Martín, Francisco Martín, Pilar Muñoz

Int J Mol Sci. 2022 Jun; 23(11): 6298. Published online 2022 Jun 4. doi: 10.3390/ijms23116298

PMCID:: PMC9181599

Abstract Article PDF–1.8M

Select item 89647156.

Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II

Janice A. Nagy, Carson Semple, Daniela Riveros, Benjamin Sanchez, Seward B. Rutkove

Sci Rep. 2022; 12: 5327. Published online 2022 Mar 29. doi: 10.1038/s41598-022-09328-0

PMCID:: PMC8964715

Abstract Article PDF–2.5M

Select item 87494827.

Muscle‐directed gene therapy corrects Pompe disease and uncovers species‐specific GAA immunogenicity

Michelle Eggers, Charles H Vannoy, Jianyong Huang, Pravinkumar Purushothaman, Jacqueline Brassard, Carlos Fonck, Hui Meng, Mariah J Prom, Michael W Lawlor, Justine Cunningham, Chanchal Sadhu, Fulvio Mavilio

EMBO Mol Med. 2022 Jan 11; 14(1): e13968. Published online 2021 Dec 1. doi: 10.15252/emmm.202113968

PMCID:: PMC8749482

Abstract Article PDF–1.9M

Select item 85688988.

Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates

Helena Costa-Verdera, Fanny Collaud, Christopher R. Riling, Pauline Sellier, Jayme M. L. Nordin, G. Michael Preston, Umut Cagin, Julien Fabregue, Simon Barral, Maryse Moya-Nilges, Jacomina Krijnse-Locker, Laetitia van Wittenberghe, Natalie Daniele, Bernard Gjata, Jeremie Cosette, Catalina Abad, Marcelo Simon-Sola, Severine Charles, Mathew Li, Marco Crosariol, Tom Antrilli, William J. Quinn, III, David A. Gross, Olivier Boyer, Xavier M. Anguela, Sean M. Armour, Pasqualina Colella, Giuseppe Ronzitti, Federico Mingozzi

Nat Commun. 2021; 12: 6393. Published online 2021 Nov 4. doi: 10.1038/s41467-021-26744-4

PMCID:: PMC8568898

Abstract Article PDF–4.0M

Select item 81001369.

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Jason Wang, Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-Oh Han, Aaron L. Carlson, Lauran Madden, Priya S. Kishnani, Dwight D. Koeberl, Nenad Bursac

Commun Biol. 2021; 4: 524. Published online 2021 May 5. doi: 10.1038/s42003-021-02059-4

PMCID:: PMC8100136

Abstract Article PDF–5.0M

Select item 805343910.

Glycogen accumulation in smooth muscle of a Pompe disease mouse model

Angela L. McCall, Justin S. Dhindsa, Aidan M. Bailey, Logan A. Pucci, Laura M. Strickland, Mai K. ElMallah

J Smooth Muscle Res. 2021; 57: 8–18. Published online 2021 Apr 20. doi: 10.1540/jsmr.57.8

PMCID:: PMC8053439

Abstract Article PDF–1.6M

Select item 793877011.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 767738012.

Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice

Ni-Chung Lee, Wei-Hao Peng, Li-Kai Tsai, Yen-Hsu Lu, Hao-Chun Wang, Yao-Chia Shih, Zeng-Xian Pung, Hsi-Yuan Hu, Wuh-Liang Hwu, Wen-Yih Isaac Tseng, Yin-Hsiu Chien

Sci Rep. 2020; 10: 20239. Published online 2020 Nov 19. doi: 10.1038/s41598-020-77193-w

PMCID:: PMC7677380

Abstract Article PDF–1.6M

Select item 755335713.

Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects

Pasqualina Colella, Pauline Sellier, Manuel J. Gomez, Maria G. Biferi, Guillaume Tanniou, Nicolas Guerchet, Mathilde Cohen-Tannoudji, Maryse Moya-Nilges, Laetitia van Wittenberghe, Natalie Daniele, Bernard Gjata, Jacomina Krijnse-Locker, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Umut Cagin, Federico Mingozzi

EBioMedicine. 2020 Nov; 61: 103052. Published online 2020 Oct 9. doi: 10.1016/j.ebiom.2020.103052

PMCID:: PMC7553357

Abstract Article PDF–5.1M

Select item 731697114.

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

Jeffrey Y. Huang, Shih-Hsin Kan, Emilie K. Sandfeld, Nancy D. Dalton, Anthony D. Rangel, Yunghang Chan, Jeremy Davis-Turak, Jon Neumann, Raymond Y. Wang

Sci Rep. 2020; 10: 10321. Published online 2020 Jun 25. doi: 10.1038/s41598-020-65259-8

PMCID:: PMC7316971

Abstract Article PDF–2.7M

Select item 723698315.

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 705725816.

Glycogen Dynamics Drives Lipid Droplet Biogenesis during Brown Adipocyte Differentiation

Alicia Mayeuf-Louchart, Steve Lancel, Yasmine Sebti, Benoit Pourcet, Anne Loyens, Stéphane Delhaye, Christian Duhem, Justine Beauchamp, Lise Ferri, Quentin Thorel, Alexis Boulinguiez, Mathilde Zecchin, Julie Dubois-Chevalier, Jérôme Eeckhoute, Logan T. Vaughn, Peter J. Roach, Christian Dani, Bartholomew A. Pederson, Stéphane D. Vincent, Bart Staels, Hélène Duez

Cell Rep. 2019 Nov 5; 29(6): 1410–1418.e6. Published online 2019 Nov 5. doi: 10.1016/j.celrep.2019.09.073

PMCID:: PMC7057258

Abstract Article

Select item 691750117.

Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo

King Faisal Yambire, Christine Rostosky, Takashi Watanabe, David Pacheu-Grau, Sylvia Torres-Odio, Angela Sanchez-Guerrero, Ola Senderovich, Esther G Meyron-Holtz, Ira Milosevic, Jens Frahm, A Phillip West, Nuno Raimundo

eLife. 2019; 8: e51031. Published online 2019 Dec 3. doi: 10.7554/eLife.51031

PMCID:: PMC6917501

Abstract Article PDF–2.8M

Select item 634668518.

Plasticity in the Glucagon Interactome Reveals Novel Proteins That Regulate Glucagon Secretion in α-TC1-6 Cells

Farzad Asadi, Savita Dhanvantari

Front Endocrinol (Lausanne) 2018; 9: 792. Published online 2019 Jan 18. doi: 10.3389/fendo.2018.00792

PMCID:: PMC6346685

Abstract Article PDF–3.6M

Select item 629804019.

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 628138320.

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease

Gaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, Arnaud Ferry, Alban Vignaud, Isabelle Guillet-Deniau, Maryline Favier, Beth L. Thurberg, Peter J. Roach, Catherine Caillaud, Emmanuel Richard

Hum Mol Genet. 2010 Feb 15; 19(4): 684–696. Published online 2009 Dec 3. doi: 10.1093/hmg/ddp535

PMCID:: PMC6281383

Abstract Article PDF–505K

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