[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 (…

[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 …

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 …

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

G SánchezElexpuru, 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 …

[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 …

[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 …

[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 …

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 …

[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. …

[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 …