Browsing by Author "López de Munain Arregui, Adolfo José"
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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; López de Munain Arregui, Adolfo José (Wiley, 2020-01)Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and ... -
A neural extracellular matrix-based method for in vitro hippocampal neuron culture and dopaminergic differentiation of neural stem cells
García Parra, Patricia; Maroto, Marcos; Cavaliere, Fabio; Naldaiz Gastesi, Neia; Álava, José I.; García, Antonio G.; López de Munain Arregui, Adolfo José; Izeta Permisán, Ander (BioMed Central, 2013)Background: The ability to recreate an optimal cellular microenvironment is critical to understand neuronal behavior and functionality in vitro. An organized neural extracellular matrix (nECM) promotes neural cell ... -
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
Ezquerra-Inchausti, Maitane; Anasagasti, Ander; Barandika, Olatz; Garai-Aramburu, Gonzaga; Galdós, Marta; López de Munain Arregui, Adolfo José; Irigoyen, Cristina; Ruiz-Ederra, Javier (Nature Publishing, 2018-09-18)Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. ... -
Acetylome in Human Fibroblasts From Parkinson's Disease Patients
Yakhine Diop, Sokhna M. S.; Rodríguez Arribas, Mario; Martínez Chacón, Guadalupe; Uribe Carretero, Elisabet; Gómez Sánchez, Rubén; Aiastui, Ana; López de Munain Arregui, Adolfo José; Bravo San Pedro, José M.; Niso Santano, Mireia; González Polo, Rosa A.; Fuentes Rodríguez, José Manuel (Frontiers Media SA, 2018-04-17)Parkinson's disease (PD) is amultifactorial neurodegenerative disorder. The pathogenesis of this disease is associated with gene and environmental factors. Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most ... -
Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study
Labayru Isusquiza, Garazi; Aliri Lazcano, Jone ; Zulaica, Miren; López de Munain Arregui, Adolfo José; Sistiaga Berrondo, Andone (Wiley, 2020-03)Background Myotonic dystrophy type 1 (DM1) is an inherited multi-systemic disease involving the central nervous system (CNS) and is consequently characterized by a range of cognitive impairments. However, whether this ... -
Aging in Myotonic Dystrophy Type 1: Analysis from a neuropsychological and neuroradiological approach
Labayru Isusquiza, Garazi (2020-07-22)La Distrofia Miotónica Tipo 1 (DM1) es la forma más común de Distrofia Muscular en adultos, ymuestra una prevalencia especialmente elevada en el área geográfica de Gipuzkoa, situándonos en elescenario idóneo para el estudio ... -
AHK konposatuen efikazia duchenne muskulu-distrofiaren animalia-ereduetan
Duchenne muskulu-distrofia (DMD) gaixotasun neuromuskular larria da eta X kromosoman dagoen distrofinaren geneko mutazio azpirakorrak dira erantzuleak. 3500 mutiletik bati eragiten dio batez beste eta, gaur egun, sendabiderik ... -
Amyotrophic lateral sclerosis: a complex syndrome that needs an integrated research approach
Riancho, Javier; Gil-Bea, Francisco J.; Santurtun, Ana; López de Munain Arregui, Adolfo José (Wolters Kluwer, 2019-02)Amyotrophic lateral sclerosis, the most common neurodegenerative disease affecting motor neurons, lacks an effective treatment. A small fraction of amyotrophic lateral sclerosis cases have a familial origin, related to ... -
Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients
Muñoz Culla, Maider; Irizar, Haritz; Castillo Triviño, Tamara; Sáenz Cuesta, Matías; Sepúlveda, Lucía; Lopetegi, Itziar; López de Munain Arregui, Adolfo José; Olascoaga, Javier; Baranzini, Sergio; Otaegui Bichot, David (Sage, 2014-05-22)Background: Natalizumab has shown its efficacy in reducing multiple sclerosis (MS) relapses and progression of disability; however, it has been associated with an increased risk of developing progressive multifocal ... -
Brain fog of post-COVID-19 condition and Chronic Fatigue Syndrome, same medical disorder?
Azcue González, Naiara; Gómez Esteban, Juan Carlos; Acera Gil, María Ángeles; Tijero Merino, Beatriz; Fernández Valle, Tamara; Ayo Mentxakatorre, Naia; Pérez Concha, Tomás; Murueta-Goyena Larrañaga, Ane; Lafuente Sánchez, José Vicente ; Prada, Alvaro; López de Munain Arregui, Adolfo José; Ruiz Irastorza, Guillermo; Ribacoba, Laureano; Gabilondo Cuellar, Iñigo; Del Pino Sáez, Rocío (BMC, 2022-12)Background: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is characterized by persistent physical and mental fatigue. The post-COVID-19 condition patients refer physical fatigue and cognitive impairment ... -
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
Lasa Elgarresta, Jaione; Mosqueira Martín, Laura; Naldaiz Gastesi, Neia; Sáenz Peña, Amets; López de Munain Arregui, Adolfo José; Vallejo Illarramendi, Ainara (MDPI, 2019-09-02)Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb ... -
Calpain 3 in skeletal muscle regeneration: Potential role in satellite cells and in the myogenic differentiation of iPSC-derived muscle progenitors
Mateos Aierdi, Alba Judith (2017-12-18)La distrofia de cinturas de tipo 2A (LGMD2A) es una enfermedad genética de herencia autosómicarecesiva, causada por mutaciones en el gen CAPN3, que codifica la proteasa muscular no lisosomalcalpaína 3. Los pacientes sufren ... -
Caracterización celular y molecular de la miogénesis dérmica de ratón y su posible traslación al humano
Naldaiz Gastesi, Neia (2018-03-12)El estudio de la miogénesis y de diversas enfermedades neuromusculares requiere generalmente el uso de técnicas in vitro, idealmente de cultivos primarios tridimensionales.En esta tesis, se ha identificado la población de ... -
Caracterización de un nuevo modelo celular periférico para la investigación en la esclerosis lateral amiotrófica
Agüeros Irañeta, Adrián José (2019-01-15)[ES] En este trabajo se propone la creación de un modelo celular in vitro, a partir de células humanas musculares que participan en la unión neuromuscular como una de las formas de representar fielmente el desarrollo de ... -
Caracterización in vivo de la influencia del silenciamiento de genes mendelianos causantes de ELA en Glia.
Fontoba Lobo, Santiago (2021-12-21)[ES]Se ha llevado a cabo la generación de modelos de Drosophila melanogaster para confirmar la influencia del silenciamiento condicionado a genes relacionados con la patogénesis de la ELA en tejido glial y la utilidad de ... -
Characterization and pharmacological modulation of calcium handling proteins in Limb-Girdle Muscle Dystrophy type R1
Lasa Elgarresta, Jaione (2021-01-27)Limb-girdle muscle dystrophy type R1 (LGMDR1) is the most common form of limb-girdle muscle dystrophy, currently with no effective treatment. LGMDR1 is caused by mutations in the CAPN3 gene and is characterized by reduced ... -
Common Variants in Alzheimer’s Disease and Risk Stratification by Polygenic Risk Scores
De Rojas, Itziar; EADB contributors; The GR@ACE study group; DEGESCO consortium; IGAP (ADGC, CHARGE, EADI, GERAD); PGC-ALZ consortia; López de Munain Arregui, Adolfo José (Springer, 2021-06-07)Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ... -
Delivery of microRNAs as a remyelination strategy in multiple sclerosis.
Osorio Querejeta, Iñaki (2019-01-18)La esclerosis múltiple es una enfermedad del sistema nervioso central para la cual no existen fármacos que promuevan la remielinización. Por ello, la comunidad científica está realizando un gran esfuerzo por desarrollar ... -
Demencia frontotemporal por mutaciones en el gen de la progranulina. Aspectos clínicos y moleculares
Moreno Izco, Fermín (2016-10-28)La demencia frontotemporal (DFT) comprende un grupo de enfermedades neurodegenerativas, clínica y neuropatológicamente heterogéneo, que se agrupan por la afectación predominante de los lóbulos frontal y temporal del cerebro, ... -
Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis
Riancho, Javier; Arozamena, Sara; López de Munain Arregui, Adolfo José (Wolters Kluwer - Medknow, 2020-11)...