BackBrowsing by Author "López de Munain Arregui, Adolfo José"
Now showing items 41-60 of 74
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Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert
(Elsevier, 2020-04)Background and objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues ... -
Gut microbiome and serum metabolome analyses identify molecular biomarkers and altered glutamate metabolism in fibromyalgia
; ; ; Abecia Aliende, Leticia
; ; ; ; ; ; ; ; ; ; ; ; ; Bujanda Fernández de Pierola, Luis ; ; ; ; ; (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 ... -
HLA-DRB1*15:01 and multiple sclerosis: a female association?
(Sage, 2011-11-29)Background: The association between multiple sclerosis (MS) and the HLA-DRB1*15: 01 haplotype has been proven to be strong, but its molecular basis remains unclear. Vitamin D receptor (VDR) gene variants and sex have been ... -
Identification of ncRNAs as Potential Therapeutic Targets in Multiple Sclerosis Through Differential ncRNA – mRNA Network Analysis
(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 ... -
Impacto clínico de un patrón de cadenas largas de ARN no codificantes en el glioblastoma multiforme
(2017-11-03)Los gliomas son el tumor primario cerebral más común. Se subdividen en 4 grupos según su malignidad. Dentro de estos, el GBM es el más frecuente, el más maligno y se destaca porsu agresividad y resistencia al tratamiento. ... -
Impulse-control disorders in Parkinson's Disease: development of an animal model
(2020-11-12)El objetivo de la presente tesis es el desarrollo de un modelo animal de parkinsonismo e impulsividad inducido por la administración del agonista dopaminérgico pramipexol (PPX).La enfermedad de Párkinson (EP) es una ... -
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology
(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 ... -
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 Permisán, 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 ... -
Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study
(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 ... -
Metabolic Alterations in Plasma from Patients with Familial and Idiopathic Parkinson's Disease
(Impact Journals LLC, 2020-09-15)The research of new biomarkers for Parkinson's disease is essential for accurate and precocious diagnosis, as well as for the discovery of new potential disease mechanisms and drug targets. The main objective of this work ... -
Muscle wasting in myotonic dystrophies: a model of premature aging
(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 ... -
Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons
(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 ... -
Myelin imaging and characterization by magnetic resonance imaging
(2019-12-13)Los axones neuronales están recubiertos de una membrana lipídica llamada mielina, que protege a los axones y posibilita una transmisión rápida y eficiente del impulso eléctrico. En ciertas patologías como la lesión cerebral ... -
Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin
(Impact Journals, 2020-04-15)Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 ... -
Neurodegeneration Trajectory in Pediatric and Adult/Late DM1: a Follow-up MRI Study Across a Decade
Labayru Isusquiza, Garazi; Jiménez Marín, Antonio; Fernández, Esther; Villanua Bernues, Jorge Alberto; Zulaica, Miren; Cortés Díaz, Jesús María; Díez, Ibai; Sepulcre, Jorge; López de Munain Arregui, Adolfo José; Sistiaga Berrondo, Andone (Wiley, 2020-10)
Objective: To characterize the progression of brain structural abnormalities in adults with pediatric and adult/late onset DM1, as well as to examine the potential predictive markers of such progression. Methods: 21 DM1 ... -
Nuevas estrategias terapéuticas en la Distrofia Miotónica tipo 1 basadas en los mecanismos moleculares del envejecimiento y del cáncer
(2021-01-22)La Distrofia Miotónica 1 (DM1) es una enfermedad neuromuscular degenerativa multisistémica caracterizada por la expansión del trinucleótido CTG en el gen DMPK. Desde un punto de vista clínico gran parte de los rasgos ... -
Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production
(Elsevier, 2024-04)Genetically modified pigs play a critical role in mimicking human diseases, xenotransplantation, and the development of pigs resistant to viral diseases. The use of programmable endonucleases, including the CRISPR/Cas9 ... -
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation
(Biomed Central, 2019-01-23)Background: Mutations in LRRK2 are a common genetic cause of Parkinson's disease (PD). LRRK2 interacts with and phosphorylates a subset of Rab proteins including Rab8a, a protein which has been implicated in various ... -
Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
(Cell Press, 2022-06-17)Mutations in LRRK2 increase its kinase activity and cause Parkinson's disease. LRRK2 phosphorylates a subset of Rab proteins which allows for their binding to RILPL1. The phospho-Rab/RILPL1 interaction causes deficits in ... -
Patient-Specific iPSC-Derived Cellular Models of LGMDR1
(Elsevier, 2021-04-08)Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain ...