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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 106258272.

GAA deficiency disrupts distal airway cells in Pompe disease

Léa El Haddad, Elias Lai, Preetish Kadur Lakshminarasimha Murthy, Debolina D. Biswas, Rania Soufny, Angela L. Roger, Purushothama Rao Tata, Mai K. ElMallah

Am J Physiol Lung Cell Mol Physiol. 2023 Sep 1; 325(3): L288–L298. Published online 2023 Jun 27. doi: 10.1152/ajplung.00032.2023

PMCID:: PMC10625827

Abstract Article

Select item 102973643.

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 102852694.

Inflammasome activation and metabolic remodelling in p16‐positive aging cells aggravates high‐fat diet‐induced lung fibrosis by inhibiting NEDD4L‐mediated K48‐polyubiquitin‐dependent degradation of SGK1

Xin Gu, Haoyu Meng, Chengyi Peng, Shiyu Lin, Baihong Li, Lin Zhao, Xue Yang, Guangyan Wang, Wenyuan Cai, Jiawen Zhou, Shuiyuan Liu, Peng Wu, Yingqiang Du, Jianliang Jin, Xiaoyan Wang

Clin Transl Med. 2023 Jun; 13(6): e1308. Published online 2023 Jun 21. doi: 10.1002/ctm2.1308

PMCID:: PMC10285269

Abstract Article PDF–20M

Select item 101216955.

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 97510866.

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 91815997.

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 89647158.

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 87494829.

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 856889810.

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 810013611.

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 805343912.

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 793877013.

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 767738014.

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 755335715.

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 731697116.

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 723698317.

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 705725818.

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 691750119.

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 634668520.

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

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