This is a selection among all the publications of our group. More information: Researcher ID: K-2751-2014; Code Orcid: 0000-0002-2399-4103.

publicaciones

Perez-Jimenez, E., Viana, R., Muñoz-Ballester, C., Vendrell-Tornero, C., Moll-Diaz, R., Garcia-Gimeno, M.A., Sanz, P. “Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: implications in Lafora disease”. GLIA 69: 1170-1183 (2021). IF: 8.07, Q1

Klionsky, D.J., ………, Sanz, P., … etc. “Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)”. Autophagy, 17: 1-382 (2021). IF: 13.39, Q1.

Kumarasinghe, L., Xiong, L., Garcia-Gimeno, MA., Lazzari, E., Sanz, P., Meroni, G. “TRIM32 and malin in neurological and neuromuscular rare diseases”. Cells 10: 820 (2021) IF: 6.60, Q1

Molla, B., Heredia, M., Sanz, P. “Modulators of neuroinflammation have a beneficial effect in a Lafora disease mouse model”. Mol. Neurobiol 58: 2508-2522 (2021). IF: 5.68. Q1

Sanz, P., Serratosa, J.M. and Sanchez, M.P. “Beneficial effects of metformin on the central nervous system, with a focus on epilepsy and Lafora disease”.Int. J. Mol. Sci 22: 5351 (2021). IF: 6.21, Q1

Jabato, F.M., Cordoba-Caballero, J., Rojano, E., Romá-Mateo, C., Sanz, P., Perez Gonzalez, B., Gallego, D., Seoane, P., Ranea, J.A.G., Perkins, J.R. “Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite”. Scientific Reports 11: 15062 (2021). IF: 4.99, Q1

Brewer, M.K., Machio-Castello, M., Viana, R., Wayne, J.L., Kuchtova, A., Simmpons, Z.R., Sternbach, S., Li, S., Garcia-Gimeno, M.A., Serratosa, J.M., Sanz, P., Vander Kooi, C., Gentry, M. “An empirical pipeline for personalized diagnosis of Lafora disease mutations”. iScience 24: 103276 (2021), IF: 6.11, Q1

Molla, B., Heredia, M., Campos, A. and Sanz, P. “Pharmacological modulation of glutamatergic and neuroinflammatory pathways in a Lafora disease mouse model”. Molecular Neurobiol. 59: 6018-6032 (2022) IF: 5.68, Q1

Rubio, T., Viana, R., Moreno-Estelles, M., Campos-Rodriguez, A., Sanz, P. “TNFalpha 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”. Neurobiol Dis 176: 105964 (2023) IF. 7.01, Q1

Roma-Mateo, C.*, Lorente-Pozo, S., Marquez-Thibaut, L., Moreno-Estelles, M., Garces, C., Gonzalez, D., Lahuerta, M., Aguado, C., Garcia-Gimenez, J.L., Sanz, P.*, Pallardó, F.V. (*Co-corresponding authors). Age-related microRNA overexpression in Lafora disease male mice provides links between neuroinflammation and oxidative stress. Int. J. Mol. Sci 24, 1089 (2023) IF. 6.21, Q1

Kumarasinghe, L., Garcia-Gimeno, M.A., Ramirez, J.M., Mayor, U., Zugaza, J.L., Sanz, P. “P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease”. Neurobiol. Dis 177: 105998 (2023) IF. 7.01, Q1

Moreno-Estellés, M., Campos-Rodriguez, A., Rubio-Villena, C., Kumarasinghe, L., Garcia-Gimeno, M.A., Sanz, P. “Deciphering the polyglucosan accumulation present in Lafora disease by using an astrocytic cellular model”. Int. J. Mol. Sci. 24, 6020 (2023) IF: 6.21, Q1

Calatayud-Baselga, I., Casares-Crespo, L., Franch-Ibañez, C., Guijarro-Nuez, J., Sanz, P. and Mira H. “Autophagy drives the conversion of developmental neural stem cells to the adult quiescent state” Nature Commun. 14, 7541 (2023) IF: 14.70, Clave A Q1

Cordoba-Caballero, J., Perkins, J.R., Garcia-Criado, F., Gallego, D., Navarro-Sanchez, A., Moreno-Estelles, M., Garcés, C., Bonet, F., Romá-Mateo, C., Toro, R., Perez, B., Sanz, P., Kohl, M., Rojano, E., Seoane, P., Ranea, J.A.G. “Exploring miRNA-target gene pair detection in disease with coRmiT” Briefings Bioinformatics 25, bbae060 (2024). IF: 7.70, Clave A Q1

Sanz, P., Rubio, T. and Garcia-Gimeno, M.A. “Neuroinflammation and epilepsy: From pathophysiology to therapies based on repurposing drugs” Int. J. Mol. Sci 25: 4161 (2024) IF: 4.90,Clave R Q1

Rubio, T., Moreno-Estellés, M., Garcés, C., Sanz, P.* and Romá-Mateo, C.* (Co-corresponding authors). “Enfermedad de Lafora: de la complejidad molecular al diseño de nuevas estrategias terapéuticas” Genética Médica y Genómica 8: 57-82 (2024). Clave R

Rubio, T., Campos-Rodriguez, A. and Sanz, P. “Beneficial effects of fingolimod in a Lafora disease mouse model by preventing reactive astrogliosis-derived neuroinflammation and brain infiltration of T-lymphocytes” Mol. Neurobiol. 61: 3105-3120 (2024) IF: 4.30, Clave A Q1.

Serratosa, J.M., Burgos, D.F., Zafra-Puerta, L., Iglesis-Cabeza, N., Sanz, P. and Sanchez, M.P. “Progessive myoclonus epilepsy of Lafora. Treatment with Metformin”

In Noebels/Jasper’s Basic Mechanisms of Epilepsies, 5th Edition, Chapter 54, pg.1123-1137 (2024). Clave R

Viana R, Rubio T, Campos-Rodríguez Á, Sanz P. “Glial alterations in the glutamatergic and GABAergic signaling pathways in a mouse model of Lafora disease, a severe form of progressive myoclonus epilepsy”. Neurophatology and Applied Neurobiology 51: e70009 (2025). IF: 3.4, Clave A Q1.

Moreno-Estellés, M., Machio, M., Gonzalez, L., Albuixech, M., Abraira, L., Quintana. M., Toledo, M., Sanchez, M.P., Serratosa, J.M. and Sanz, P. “Identification of plasma growth factors and cytokines as diagnostic biomarkers for Lafora disease”. Int. J. Mol. Sci. 26: 5354 (2025) IF: 4.9, Clave A Q1.

Meredith Williams, Katherine J. Donohue, Pascual Sanz, Souad Messahel, Jose M. Serratosa, Jordi Duran, Roberto Michelucci, Antonio Delgado-Escueta, Viet Nguyen, Berge A. Minassian, Matthew S. Gentry. “The 9th Annual Lafora Science Symposium: A rare disease makes progress towards clinical readiness”. Epilepsy and Behavior, 171: 110654 (2025) IF: 2.3, Clave A q2

Sanz, P. and Garcia-Gimeno, M.A. “Glycophagy: a selective autophagy pathway for glycogen degradation”. International Rev. Cell. Mol. Biol. Vol 403. Autophagy part A. Chapter 18 (2025), in press. Clave R

Zafra-Puerta, L., Iglesias-Cabeza, N., Sanz, P., Garcia-Gimeno, M.A., Sanchez-Martin, G., Sanchez, M.P., Serratosa, J.M. “Adeno associated virus based gene therapy for Lafora disease in Epm2b-/- deficient mice”. Int J. Mol Sci 26: 11930 (2025) IF: 4.9, Clave A Q1

Moreno-Estellés, M., Campos-Rodriguez, A., Viana, R., Baños-Carrión, L., Albuixech, M., garcia-Gimeno, M.A., and Sanz, P. “An astrocytic cellular model of Lafora disease to study polyglucosan accumulation and inflammation” Disease Models Mechanisms 19: dmm.052672 (2026) IF: 3.3, Clave A Q1

Brewer, M.K., Donohue, K.J., Singh, P. K., Simmons, Z.R., Wayne, J.L., Li, S., Viana, R., Segvich, D.M., Contreras, C.J., Cantrell, A.R., Sanz, P., Sun, R.C., Vander Kooi, C.W., Roach, P.J., DePaoli-Roach, A., and Gentry, M.S. “The biochemical dynamics of the glycogen phosphatase laforin directly impacts brain metabolism” J. Biol. Chem. 302: 111097 (2026). IF: 3.9, Clave A q2