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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 106824762.

TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy

Teresa Rubio, Rosa Viana, Mireia Moreno-Estellés, Ángela Campos-Rodríguez, Pascual Sanz

Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Neurobiol Dis. 2023 Jan; 176: 105964. Published online 2022 Dec 14. doi: 10.1016/j.nbd.2022.105964

PMCID:: PMC10682476

Abstract Article PDF–2.3M

Select item 98655723.

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 98442274.

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 88571705.

Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora

Pasquale Pellegrini, Arnau Hervera, Olga Varea, M. Kathryn Brewer, Iliana López-Soldado, Anna Guitart, Mònica Aguilera, Neus Prats, José Antonio del Río, Joan J. Guinovart, Jordi Duran

Mol Neurobiol. 2022; 59(2): 1214–1229. Published online 2021 Dec 28. doi: 10.1007/s12035-021-02682-6

PMCID:: PMC8857170

Abstract Article PDF–4.8M

Select item 77366426.

Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.

Olga Varea, Jordi Duran, Mònica Aguilera, Neus Prats, Joan J Guinovart

Neurobiol Dis. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Neurobiol Dis. 2021 Jan; 147: 105173. Published online 2020 Nov 7. doi: 10.1016/j.nbd.2020.105173

PMCID:: PMC7736642

Abstract Article PDF–3.6M

Select item 75891507.

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 75862258.

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 67084669.

In vivo glutamate clearance defects in a mouse model of Lafora disease

C. Muñoz-Ballester, N. Santana, E. Perez-Jimenez, R. Viana, F. Artigas, P. Sanz

Exp Neurol. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Exp Neurol. 2019 Oct; 320: 112959. Published online 2019 May 18. doi: 10.1016/j.expneurol.2019.112959

PMCID:: PMC6708466

Abstract Article PDF–1.1M

Select item 653060010.

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 624035811.

Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora Disease

Elisabet Augé, Carme Pelegrí, Gemma Manich, Itsaso Cabezón, Joan J. Guinovart, Jordi Duran, Jordi Vilaplana

Glia. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Glia. 2018 Oct; 66(10): 2094–2107. Published online 2018 Aug 26. doi: 10.1002/glia.23463

PMCID:: PMC6240358

Abstract Article PDF–3.9M

Select item 605919412.

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 549450413.

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 549196914.

4-PBA and metformin decrease sensitivity to PTZ-induced seizures in a malin knockout model of Lafora disease

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

Neuroreport. Author manuscript; available in PMC 2018 Mar 22.

Published in final edited form as: Neuroreport. 2017 Mar 22; 28(5): 268–271. doi: 10.1097/WNR.0000000000000751

PMCID:: PMC5491969

Abstract Article PDF–353K

Select item 548115315.

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 547447716.

Pharmacological interventions to ameliorate neuropathological symptoms in a mouse model of Lafora disease

Arnaud Berthier, Miguel Payá, Ana M. García-Cabrero, Maria Inmaculada Ballester, Miguel Heredia, José M. Serratosa, Marina P. Sánchez, Pascual Sanz

Mol Neurobiol. Author manuscript; available in PMC 2017 Jun 19.

Published in final edited form as: Mol Neurobiol. 2016 Mar; 53(2): 1296–1309. Published online 2015 Jan 28. doi: 10.1007/s12035-015-9091-8

PMCID:: PMC5474477

Abstract Article PDF–1.1M

Select item 547267817.

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 547267718.

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

PMCID:: PMC5472677

Abstract Article PDF–710K

Select item 535259419.

Loss of malin, but not laforin, results in compromised autophagic flux and proteasomal dysfunction in cells exposed to heat shock

Navodita Jain, Anupama Rai, Rohit Mishra, Subramaniam Ganesh

Cell Stress Chaperones. 2017 Mar; 22(2): 307–315. Published online 2016 Dec 14. doi: 10.1007/s12192-016-0754-9

PMCID:: PMC5352594

Abstract Article PDF–1.6M

Select item 433176120.

Neuronal glycogen synthesis contributes to physiological aging

Christopher Sinadinos, Jordi Valles-Ortega, Laura Boulan, Estel Solsona, Maria F Tevy, Mercedes Marquez, Jordi Duran, Carmen Lopez-Iglesias, Joaquim Calbó, Ester Blasco, Marti Pumarola, Marco Milán, Joan J Guinovart

Aging Cell. 2014 Oct; 13(5): 935–945. Published online 2014 Jul 25. doi: 10.1111/acel.12254

PMCID:: PMC4331761

Abstract Article PDF–2.3M

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PMC Links for GEO Profiles (Select 54904309) (37)
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df61d03.y1 Xenopus laevis unfertilized egg cDNA library Xenopus laevis cDNA clon...
df61d03.y1 Xenopus laevis unfertilized egg cDNA library Xenopus laevis cDNA clone IMAGE:3743813 5', mRNA sequence
gi|10063562|gnl|dbEST|5939949|gb|BE 3.1|

Nucleotide
JGI_CAAN9926.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7695516 5',...
JGI_CAAN9926.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7695516 5', mRNA sequence
gi|58714237|gnl|dbEST|27631398|gb|C 79.1|

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