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Select item 110639071.

Impaired malin expression and interaction with partner proteins in Lafora disease

Alexander V. Skurat, Dyann M. Segvich, Christopher J. Contreras, Yueh-Chiang Hu, Thomas D. Hurley, Anna A. DePaoli-Roach, Peter J. Roach

J Biol Chem. 2024 May; 300(5): 107271. Published online 2024 Apr 7. doi: 10.1016/j.jbc.2024.107271

PMCID:: PMC11063907

Abstract Article PDF–4.1M

Select item 98655722.

Carlos Romá-Mateo, Sheila Lorente-Pozo, Lucía Márquez-Thibaut, Mireia Moreno-Estellés, Concepción Garcés, Daymé González, Marcos Lahuerta, Carmen Aguado, José Luis García-Giménez, Pascual Sanz, Federico V. Pallardó

Int J Mol Sci. 2023 Jan; 24(2): 1089. Published online 2023 Jan 6. doi: 10.3390/ijms24021089

PMCID:: PMC9865572

Abstract Article PDF–1.2M

Select item 98442273.

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy

Sharmistha Mitra, Baozhi Chen, Peixiang Wang, Erin E. Chown, Mathew Dear, Dikran R. Guisso, Ummay Mariam, Jun Wu, Emrah Gumusgoz, Berge A. Minassian

Dis Model Mech. 2023 Jan 1; 16(1): dmm049802. Published online 2023 Jan 6. doi: 10.1242/dmm.049802

PMCID:: PMC9844227

Abstract Article

Select item 82667484.

Brain glycogen serves as a critical glucosamine cache required for protein glycosylation

Ramon C. Sun, Lyndsay E.A. Young, Ronald C. Bruntz, Kia H. Markussen, Zhengqiu Zhou, Lindsey R. Conroy, Tara R. Hawkinson, Harrison A. Clarke, Alexandra E. Stanback, Jessica K.A. Macedo, Shane Emanuelle, M. Kathryn Brewer, Alberto L. Rondon, Annette Mestas, William C. Sanders, Krishna K. Mahalingan, Buyun Tang, Vimbai M. Chikwana, Dyann M. Segvich, Christopher J. Contreras, Elizabeth J. Allenger, Christine F. Brainson, Lance A. Johnson, Richard E. Taylor, Dustin D. Armstrong, Robert Shaffer, Charles J. Waechter, Craig W. Vander Kooi, Anna A. DePaoli-Roach, Peter J. Roach, Thomas D. Hurley, Richard R. Drake, Matthew S. Gentry

Cell Metab. Author manuscript; available in PMC 2022 Jul 6.

Published in final edited form as: Cell Metab. 2021 Jul 6; 33(7): 1404–1417.e9. Published online 2021 May 26. doi: 10.1016/j.cmet.2021.05.003

PMCID:: PMC8266748

Abstract Article PDF–2.2M

Select item 79360085.

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease

Lori Israelian, Silvia Nitschke, Peixiang Wang, Xiaochu Zhao, Ami M. Perri, Jennifer P.Y. Lee, Brandy Verhalen, Felix Nitschke, Berge A. Minassian

J Neurochem. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: J Neurochem. 2021 Jun; 157(6): 1897–1910. Published online 2020 Oct 10. doi: 10.1111/jnc.15176

PMCID:: PMC7936008

Abstract Article PDF–2.4M

Select item 75891506.

Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease

Daniel F. Burgos, Lorena Cussó, Gentzane Sánchez-Elexpuru, Daniel Calle, Max Bautista Perpinyà, Manuel Desco, José M. Serratosa, Marina P. Sánchez

Int J Mol Sci. 2020 Oct; 21(20): 7771. Published online 2020 Oct 20. doi: 10.3390/ijms21207771

PMCID:: PMC7589150

Abstract Article PDF–2.4M

Select item 75862257.

Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid

Silvia Nitschke, Sara Petković, Saija Ahonen, Berge A. Minassian, Felix Nitschke

J Biol Chem. 2020 Oct 23; 295(43): 14698–14709. Published online 2020 Aug 13. doi: 10.1074/jbc.RA120.015061

PMCID:: PMC7586225

Abstract Article PDF–1.9M

Select item 65306008.

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke

Cell Rep. Author manuscript; available in PMC 2019 May 22.

Published in final edited form as: Cell Rep. 2019 Apr 30; 27(5): 1334–1344.e6. doi: 10.1016/j.celrep.2019.04.017

PMCID:: PMC6530600

Abstract Article PDF–2.2M

Select item 60848909.

Protein targeting to glycogen is a master regulator of glycogen synthesis in astrocytes

E. Ruchti, P.J. Roach, A.A. DePaoli-Roach, P.J. Magistretti, I. Allaman

IBRO Rep. 2016 Dec; 1: 46–53. Published online 2016 Oct 4. doi: 10.1016/j.ibror.2016.10.002

PMCID:: PMC6084890

Abstract Article PDF–724K

Select item 605919410.

Astrocytes: new players in progressive myoclonus epilepsy of Lafora type

Carla Rubio-Villena, Rosa Viana, Jose Bonet, Maria Adelaida Garcia-Gimeno, Marta Casado, Miguel Heredia, Pascual Sanz

Hum Mol Genet. 2018 Apr 1; 27(7): 1290–1300. Published online 2018 Feb 1. doi: 10.1093/hmg/ddy044

PMCID:: PMC6059194

Abstract Article PDF–1.7M

Select item 549596211.

Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease

Gentzane Sánchez-Elexpuru, José M. Serratosa, Marina P. Sánchez

Epilepsia. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Epilepsia. 2017 Mar; 58(3): 467–475. Published online 2017 Jan 18. doi: 10.1111/epi.13656

PMCID:: PMC5495962

Abstract Article PDF–1022K

Select item 549450412.

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

Felix Nitschke, Mitchell A Sullivan, Peixiang Wang, Xiaochu Zhao, Erin E Chown, Ami M Perri, Lori Israelian, Lucia Juana‐López, Paola Bovolenta, Santiago Rodríguez de Córdoba, Martin Steup, Berge A Minassian

EMBO Mol Med. 2017 Jul; 9(7): 906–917. Published online 2017 May 23. doi: 10.15252/emmm.201707608

PMCID:: PMC5494504

Abstract Article PDF–1.4M

Select item 548115313.

Lafora disease is an inherited metabolic cardiomyopathy

María Villalba-Orero, Gentzane Sánchez-Elexpuru, Marina López-Olañeta, Oscar Campuzano, Elisabet Bello-Arroyo, Pablo García-Pavía, José M Serratosa, Ramón Brugada, Marina Sánchez, Enrique Lara-Pezzi

J Am Coll Cardiol. Author manuscript; available in PMC 2018 Jun 20.

Published in final edited form as: J Am Coll Cardiol. 2017 Jun 20; 69(24): 3007–3009. doi: 10.1016/j.jacc.2017.04.029

PMCID:: PMC5481153

Article PDF–294K

Select item 547267814.

Inflammation in Lafora Disease: evolution with disease progression in laforin and malin knock-out mouse models

Irene López-González, Rosa Viana, Pascual Sanz, Isidre Ferrer

Mol Neurobiol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Mol Neurobiol. 2017 Jul; 54(5): 3119–3130. Published online 2016 Apr 4. doi: 10.1007/s12035-016-9884-4

PMCID:: PMC5472678

Abstract Article PDF–1017K

Select item 547267715.

Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease

Carmen Muñoz-Ballester, Arnaud Berthier, Rosa Viana, Pascual Sanz

Biochim Biophys Acta. Author manuscript; available in PMC 2017 Jun 16.

Published in final edited form as: Biochim Biophys Acta. 2016 Jun; 1862(6): 1074–1083. Published online 2016 Mar 11. doi: 10.1016/j.bbadis.2016.03.008