Now showing items 1-20 of 25

    • Thumbnail

      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 ...
    • Thumbnail

      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, 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 ...
    • Thumbnail

      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. ...
    • Thumbnail

      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, Jose 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 ...
    • Thumbnail

      Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study 

      Labayru, 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 ...
    • Thumbnail

      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 ...
    • Thumbnail

      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 Illaramendi, 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 ...
    • Thumbnail

      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)
      ...
    • Thumbnail

      Differential Micro RNA Expression in PBMC from Multiple Sclerosis Patients 

      Otaegui Bichot, David; Baranzini, Sergio E.; Armañanzas Arnedillo, Rubén; Calvo Molinos, Borja; Muñoz-Culla, Maider; Khankhanian, Puya; Inza Cano, Iñaki; Lozano Alonso, José Antonio; Castillo Triviño, Tamara; Asensio, Ana; Olaskoaga, Javier; López de Munain Arregui, Adolfo José (Public Library of Science, 2009-07-20)
      Differences in gene expression patterns have been documented not only in Multiple Sclerosis patients versus healthy controls but also in the relapse of the disease. Recently a new gene expression modulator has been identified: ...
    • Thumbnail

      Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic Parkinson disease patients, and healthy controls 

      Alvarez-Castelao, Beatriz; Gorostidi, Ana; Ruíz-Martínez, Javier; López de Munain Arregui, Adolfo José; Castaño, José G. (Frontiers Research Foundation, 2014-07-15)
      Alpha-synuclein (Snca) plays a major role in Parkinson disease (PD). Circulating anti-Snca antibodies has been described in PD patients and healthy controls, but they have been poorly characterized. This study was designed ...
    • Thumbnail

      Expression Profiling Analysis Reveals Key MicroRNA– mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa 

      Anasagasti, Ander; Ezquerra-Inchausti, Maitane; Barandika, Olatz; Muñoz-Culla, Maider; Caffarel, María M.; Otaegui Bichot, David; López de Munain Arregui, Adolfo José; Ruiz-Ederra, Javier (Association Research Vision Ophthalmology, 2018-05)
      PURPOSE. The aim of this study was to identify differentially expressed microRNAs (miRNAs) that might play an important role in the etiology of retinal degeneration in a genetic mouse model of retinitis pigmentosa (rd10 ...
    • Thumbnail

      Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A 

      Sáenz, Amets; Azpitarte, Margarita; Armañanzas Arnedillo, Rubén; Leturcq, France; Alzualde, Ainhoa; Inza Cano, Iñaki; García-Bragado, Federico; De la Herran Núñez, Gaspar; Corcuera, Julián; Cabello, Ana; Navarro, Carmen; De la Torre, Carolina; Gallardo, Eduard; Illa, Isabel; López de Munain Arregui, Adolfo José (Public Library of Science, 2008-11-18)
      Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Calpain 3 plays different roles in muscular cells, but little is known about its functions or in ...
    • Thumbnail

      Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project 

      GRACE Consortium; DEGESCO Consortium; Alzheimers Dis Neuroimaging Initia; GRACE Study Grp; Martinez de Pancorbo Gomez, Maria de los Angeles; López de Munain Arregui, Adolfo José (Elsevier Science INC, 2019-10)
      Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a ...
    • Thumbnail

      Gut microbiome and serum metabolome analyses identify molecular biomarkers and altered glutamate metabolism in fibromyalgia 

      Clos Garcia, Marc; Andrés Marín, Naiara; Fernández Eulate, Gorka; Abecia, Leticia; Lavín, José L.; Van Liemp, Sebastiaan; Cabrera, Diana; Royo, Félix; Valero, Alejandro; Errazquin, Nerea; Gómez Vega, María Cristina; Govillar, Leila; Tackett, Michael R.; Tejada, Genesis; González, Esperanza; Anguita Castillo, Juan de Dios; Bujanda Fernández de Pierola, Luis; Callejo Orcasitas, Ana María; Aransay Bañares, Ana María; Maíz, Olga; López de Munain Arregui, Adolfo José; Falcón Pérez, Juan Manuel (Elsevier, 2019-08)
      Background: Fibromyalgia is a complex, relatively unknown disease characterised by chronic, widespread musculoskeletal pain. The gut-brain axis connects the gut microbiome with the brain through the enteric nervous system ...
    • Thumbnail

      Identification of ncRNAs as Potential Therapeutic Targets in Multiple Sclerosis Through Differential ncRNA – mRNA Network Analysis 

      Irizar, Haritz; Muñoz Culla, Maider; Sáenz Cuesta, Matías; Osorio Querejeta, Iñaki; Sepúlveda, Lucía; Castillo Triviño, Tamara; Prada, Alvaro; López de Munain Arregui, Adolfo José; Olascoaga, Javier; Otaegui Bichot, David (Biomed Central, 2015-03-28)
      Background: Several studies have revealed a potential role for both small nucleolar RNAs (snoRNAs) and microRNAs (miRNAs) in the physiopathology of relapsing-remitting multiple sclerosis (RRMS). This potential implication ...
    • Thumbnail

      iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology 

      Matamoros-Angles, Andreu; Mayela Gayosso, Lucía; Richaud-Patin, Yvonne; Di Domenico, Angelique; Vergara, Cristina; Hervera, Arnau; Sousa, Amaya; Fernández-Borges, Natalia; Consiglio, Antonella; Gavín, Rosalina; López de Maturana, Rakel; Ferrer, Isidro; López de Munain Arregui, Adolfo José; Raya, Ángel; Castilla, Joaquín; Sánchez-Pernaute, Rosario; Del Río, José Antonio (Humana Press, 2018-04)
      Gerstmann-Straussler-Scheinker (GSS) syndrome is a fatal autosomal dominant neurodegenerative prionopathy clinically characterized by ataxia, spastic paraparesis, extrapyramidal signs and dementia. In some GSS familiar ...
    • Thumbnail

      Isolation and characterization of myogenic precursor cells from human cremaster muscle 

      Naldaiz Gastesi, Neia; Goicoechea Bianchi, María; Aragón, Isabel María; Pérez López, Virginia; Fuertes Álvarez, Sandra; Herrera Imbroda, Bernardo; López de Munain Arregui, Adolfo José; De Luna Díaz, Resi; Baptista, Pedro M.; Alejandro Fernández, M.; Lara, María Fernanda; Izeta Permisan, Ander (Nature Publishing, 2019-03-05)
      Human myogenic precursor cells have been isolated and expanded from a number of skeletal muscles, but alternative donor biopsy sites must be sought after in diseases where muscle damage is widespread. Biopsy sites must be ...
    • Thumbnail

      Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study 

      Wang, Youjin; Best, Ana; Fernández Torrón, Roberto; Alsaggaf, Rotana; Garcia Puga, Mikel; Dagnall, Casey L.; Hicks, Belynda; Thompson, Mone’t; Matheu Fernández, Ander; Zulaica Ijurco, Miren; Greene, Mark H.; López de Munain Arregui, Adolfo José; Gadalla, Shahinaz M. (Wiley, 2019-12)
      Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with ...
    • Thumbnail

      Muscle wasting in myotonic dystrophies: a model of premature aging 

      Mateos Aierdi, Alba Judith; Goicoechea, María; Aiastui, Ana; Fernández-Torrón, Roberto; García-Puga, Mikel; Matheu Fernández, Ander; López de Munain Arregui, Adolfo José (Frontiers Research Foundation, 2015-07-09)
      Myotonic dystrophy type 1 (DM1 or Steinert's disease) and type 2 (DM2) are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the most prominent neuromuscular features of these ...
    • Thumbnail

      Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons 

      López de Maturana, Rakel; Lang, Valérie; Zubiarrain, Amaia; Sousa, Amaya; Vázquez, Nerea; Gorostidi, Ana; Águila, Julio; López de Munain Arregui, Adolfo José; Rodríguez, Manuel; Sánchez-Pernaute, Rosario (Biomed Central, 2016-11-18)
      Background: Mutations in leucine-rich repeat kinase 2 (LRRK2) contribute to both familial and idiopathic forms of Parkinson's disease (PD). Neuroinflammation is a key event in neurodegeneration and aging, and there is ...