[HTML][HTML] Tau-induced pathology in epilepsy and dementia: notions from patients and animal models
…, AM García-Cabrero, G Sánchez-Elexpuru… - International journal of …, 2018 - mdpi.com
Patients with dementia present epilepsy more frequently than the general population. Seizures
are more common in patients with Alzheimer’s disease (AD), dementia with Lewy bodies (…
are more common in patients with Alzheimer’s disease (AD), dementia with Lewy bodies (…
[HTML][HTML] Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome
J Arranz, E Balducci, K Arató, G Sánchez-Elexpuru… - Neurobiology of …, 2019 - Elsevier
Autism spectrum disorders are early onset neurodevelopmental disorders characterized by
deficits in social communication and restricted repetitive behaviors, yet they are quite …
deficits in social communication and restricted repetitive behaviors, yet they are quite …
4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease
G Sánchez-Elexpuru, JM Serratosa, P Sanz… - …, 2017 - journals.lww.com
Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by
loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene …
loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene …
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin‐deficient mouse model of Lafora disease
G Sánchez‐Elexpuru, JM Serratosa, MP Sánchez - Epilepsia, 2017 - Wiley Online Library
Objective To search for new therapies aimed at ameliorating the neurologic symptoms and
epilepsy developing in patients with Lafora disease. Methods Lafora disease is caused by …
epilepsy developing in patients with Lafora disease. Methods Lafora disease is caused by …
[HTML][HTML] Enhanced sensitivity of laforin-and malin-deficient mice to the convulsant agent pentylenetetrazole
AM García-Cabrero, G Sánchez-Elexpuru… - Frontiers in …, 2014 - frontiersin.org
Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations
in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin. It is …
in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin. It is …
[HTML][HTML] Toward the use of novel alternative methods in epilepsy modeling and drug discovery
…, D Caballero Diaz, G Sanchez-Elexpuru… - Frontiers in …, 2023 - frontiersin.org
Epilepsy is a chronic brain disease and, considering the amount of people affected of all
ages worldwide, one of the most common neurological disorders. Over 20 novel antiseizure …
ages worldwide, one of the most common neurological disorders. Over 20 novel antiseizure …
[HTML][HTML] Structural and functional brain abnormalities in mouse models of Lafora disease
DF Burgos, L Cussó, G Sánchez-Elexpuru… - International Journal of …, 2020 - mdpi.com
Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively,
are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with …
are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with …
An inducible expression system for the manipulation of autophagic flux in vivo
L Schlotawa, A Lopez, G Sanchez-Elexpuru… - Autophagy, 2023 - Taylor & Francis
Much of our understanding of the intracellular regulation of macroautophagy/autophagy
comes from in vitro studies. However, there remains a paucity of knowledge about how this …
comes from in vitro studies. However, there remains a paucity of knowledge about how this …
[HTML][HTML] Lafora Disease is an inherited metabolic cardiomyopathy
M Villalba-Orero, G Sánchez-Elexpuru… - Journal of the American …, 2017 - jacc.org
… Sánchez-Elexpuru is supported by a fellowship from the Fundacion Conchita Rabago. The
authors have reported … Villalba-Orero and Sánchez-Elexpuru contributed equally to this work. …
authors have reported … Villalba-Orero and Sánchez-Elexpuru contributed equally to this work. …
[HTML][HTML] Unexpected phenotype reversion and survival in a zebrafish model of multiple sulfatase deficiency
A Fleming, LZ Xuan, G Sanchez-Elexpuru… - Frontiers in Cell and …, 2022 - frontiersin.org
Multiple sulfatase deficiency (MSD) is a rare recessively inherited Mendelian disorder that
manifests with developmental delay, neurodegeneration, skeletal deformities, facial …
manifests with developmental delay, neurodegeneration, skeletal deformities, facial …