Pascual Sanz Selected Research

Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)

5/2021	Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.
4/2020	Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.
1/2018	Astrocytes: new players in progressive myoclonus epilepsy of Lafora type.
7/2013	Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex.
7/2011	Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level.
7/2011	Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.
1/2011	A PTG variant contributes to a milder phenotype in Lafora disease.
7/2010	Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
12/2003	Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

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Pascual Sanz Research Topics

Disease

32	Lafora Disease 06/2021 - 12/2003
16	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 08/2005
9	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 05/2021 - 12/2003
6	Seizures (Absence Seizure) 06/2021 - 08/2004
6	Epilepsy (Aura) 05/2021 - 01/2013
2	Huntington Disease (Huntington's Disease) 01/2022 - 01/2019
2	Type 2 Diabetes Mellitus (MODY) 05/2021 - 08/2004
2	Rare Diseases (Rare Disease) 01/2021 - 04/2020
2	Friedreich Ataxia (Friedreich's Ataxia) 04/2020 - 08/2005
2	Inflammation (Inflammations) 01/2019 - 01/2017
2	Hepatocellular Carcinoma (Hepatoma) 07/2011 - 03/2008
2	Hypoglycemia (Reactive Hypoglycemia) 12/2009 - 08/2004
1	Neuroinflammatory Diseases 10/2022
1	Cognitive Dysfunction 06/2020
1	Retinal Dystrophies 04/2020
1	Drug Resistant Epilepsy 04/2020
1	Pathologic Processes 04/2020
1	Disease Progression 01/2017
1	Gliosis 03/2016
1	Insulin Resistance 07/2011
1	Type 2 Maturity-Onset Diabetes of the Young 01/2008
1	Mason-Type Diabetes 01/2008
1	Congenital Hyperinsulinism 08/2004
1	Hyperinsulinism (Hyperinsulinemia) 08/2004
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 12/2003
1	Starvation 09/2002

Drug/Important Bio-Agent (IBA)

11	GlycogenIBA 01/2020 - 12/2003
9	Ligases (Synthetase)IBA 01/2020 - 06/2009
8	Proteins (Proteins, Gene)FDA Link 01/2020 - 07/2010
8	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2017 - 12/2003
7	polyglucosanIBA 06/2021 - 12/2003
7	Dual-Specificity PhosphatasesIBA 12/2015 - 06/2009
5	AMP-Activated Protein KinasesIBA 01/2022 - 08/2010
4	Metformin (Glucophage)FDA LinkGeneric 05/2021 - 03/2016
3	GlucansIBA 01/2017 - 07/2013
3	GlucokinaseIBA 12/2009 - 08/2004
2	Neuroprotective AgentsIBA 01/2022 - 05/2021
2	Amino Acid Transport System X-AG (Glutamate Transporter)IBA 01/2021 - 01/2016
2	4-phenylbutyric acid (Buphenyl)FDA Link 03/2017 - 03/2016
2	AntioxidantsIBA 01/2015 - 10/2014
2	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 07/2011 - 08/2010
2	Insulin (Novolin)FDA Link 07/2011 - 08/2004
2	Hypoglycemic Agents (Hypoglycemics)IBA 12/2009 - 08/2004
1	Minocycline (Cyclops)FDA LinkGeneric 10/2022
1	ResveratrolIBA 10/2022
1	indoleIBA 01/2022
1	polyglutamineIBA 01/2022
1	BiguanidesIBA 05/2021
1	Pharmaceutical PreparationsIBA 05/2021
1	Calcium Channels (Calcium Channel)IBA 01/2021
1	CytokinesIBA 06/2020
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 06/2020
1	CannabidiolIBA 06/2020
1	IronIBA 04/2020
1	Brain-Derived Neurotrophic Factor (BDNF)IBA 01/2019
1	Pentylenetetrazole (Metrazol)IBA 03/2017
1	Protein AggregatesIBA 01/2017
1	Proteasome Endopeptidase Complex (Proteasome)IBA 12/2013
1	ThioredoxinsIBA 12/2013
1	CarbohydratesIBA 01/2011
1	UbiquitinIBA 08/2010
1	EnzymesIBA 12/2009
1	FrataxinIBA 08/2005
1	Diazoxide (Hyperstat)FDA Link 08/2004
1	Protein Phosphatase 1IBA 12/2003
1	SNF1-related protein kinasesIBA 09/2002
1	CarbonIBA 09/2002

Therapy/Procedure

3	Therapeutics 04/2020 - 01/2011
1	Aftercare (After-Treatment) 08/2004
1	Pancreatectomy 08/2004