Search Results - "De Luna, Noemi"

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis by Suárez-Calvet, Xavier, Gallardo, Eduard, Pinal-Fernandez, Iago, De Luna, Noemi, Lleixà, Cinta, Díaz-Manera, Jordi, Rojas-García, Ricardo, Castellví, Ivan, Martínez, M Angeles, Grau, Josep M, Selva-O'Callaghan, Albert, Illa, Isabel

“…Dermatomyositis (DM) is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations. In the differential diagnosis of DM the…”
Get full text

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes by Gallardo, Eduard, Ankala, Arunkanth, Núñez-Álvarez, Yaiza, Hegde, Madhuri, Diaz-Manera, Jordi, Luna, Noemí De, Pastoret, Ana, Suelves, Mònica, Illa, Isabel

“…ABSTRACT Dysferlinopathies are autosomal recessive inherited muscular dystrophies caused by mutations in the gene DYSF. Dysferlin is primarily expressed in…”
Get full text

PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease? by de Luna, Noemí, Brull, Astrid, Lucia, Alejandro, Santalla, Alfredo, Garatachea, Nuria, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs

“…Highlights • We study PYGM expression in white blood cells of McArdle patients. • PYGM expression in white blood cells is lower in the McArdle patients…”
Get full text

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro by de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs

“…McArdle disease, also termed 'glycogen storage disease type V', is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the…”
Get full text

Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis by De Luna, Noemi, Turon-Sans, Joana, Cortes-Vicente, Elena, Carrasco-Rozas, Ana, Illán-Gala, Ignacio, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Gallardo, Eduard, Illa, Isabel, Rojas-García, Ricardo

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which the pathophysiological mechanisms of motor neuron loss are not precisely…”
Get full text

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation by Dols-Icardo, Oriol, García-Redondo, Alberto, Rojas-García, Ricardo, Borrego-Hernández, Daniel, Illán-Gala, Ignacio, Muñoz-Blanco, José Luís, Rábano, Alberto, Cervera-Carles, Laura, Juárez-Rufián, Alexandra, Spataro, Nino, De Luna, Noemí, Galán, Lucía, Cortes-Vicente, Elena, Fortea, Juan, Blesa, Rafael, Grau-Rivera, Oriol, Lleó, Alberto, Esteban-Pérez, Jesús, Gelpi, Ellen, Clarimón, Jordi

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum.ObjectivesThe purpose of the…”
Get full text

Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy by Piñol-Jurado, Patricia, Gallardo, Eduard, de Luna, Noemi, Suárez-Calvet, Xavier, Sánchez-Riera, Carles, Fernández-Simón, Esther, Gomis, Clara, Illa, Isabel, Díaz-Manera, Jordi

“…Duchenne muscular dystrophy (DMD) is characterized by a progressive loss of muscle fibers, and their substitution by fibrotic and adipose tissue. Many factors…”
Get full text

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy by Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Barba, Ignasi, Costa, Carme, de Luna, Noemí, Andreu, Antoni L, Barquinero, Jordi, Hirano, Michio, Cámara, Yolanda, Martí, Ramon

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a metabolic disorder caused by mutations in TYMP, encoding thymidine phosphorylase (TP). In…”
Get more information

Cortical microstructure in the amyotrophic lateral sclerosis–frontotemporal dementia continuum by Illán-Gala, Ignacio, Montal, Victor, Pegueroles, Jordi, Vilaplana, Eduard, Alcolea, Daniel, Dols-Icardo, Oriol, de Luna, Noemi, Turón-Sans, Janina, Cortés-Vicente, Elena, Martinez-Roman, Luis, Sánchez-Saudinós, Maria Belén, Subirana, Andrea, Videla, Laura, Sala, Isabel, Barroeta, Isabel, Valldeneu, Sílvia, Blesa, Rafael, Clarimón, Jordi, Lleó, Alberto, Fortea, Juan, Rojas-García, Ricard

“…OBJECTIVETo characterize the cortical macrostructure and microstructure of behavioral and cognitive changes along the amyotrophic lateral sclerosis…”
Get full text

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models by Almodóvar-Payá, Aitana, Villarreal-Salazar, Mónica, de Luna, Noemí, Nogales-Gadea, Gisela, Real-Martínez, Alberto, Andreu, Antoni L, Martín, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro, Vissing, John, Krag, Thomas, Pinós, Tomàs

“…GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting…”
Get full text

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases by De Luna, Noemí, Suarez-Calvet, Xavier, Garicano, Maialen, Fernandez-Simon, Esther, Rojas-García, Ricardo, Diaz-Manera, Jordi, Querol, Luis, Illa, Isabel, Gallardo, Eduard

“…Abstract The human rhabdomyosarcoma cell line TE671 has been used extensively to study different aspects of muscle biology. However, its ability to…”
Get full text

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model by Real-Martinez, Alberto, Brull, Astrid, Huerta, Jordi, Tarrasó, Guillermo, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Andreu, Antoni L., Nogales-Gadea, Gisela, Vissing, John, Krag, Thomas O., de Luna, Noemi, Pinós, Tomàs

“…McArdle disease is an autosomal recessive disorder caused by the absence of the muscle glycogen phosphorylase, which leads to impairment of glycogen breakdown…”
Get full text

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis by De Luna, Noemí, Suárez-Calvet, Xavier, Lleixà, Cinta, Diaz-Manera, Jordi, Olivé, Montse, Illa, Isabel, Gallardo, Eduard

“…Dermatomyositis is an inflammatory myopathy characterized by symmetrical proximal muscle weakness and skin changes. Muscle biopsy hallmarks include…”
Get full text

Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies by Reyes-Leiva, David, Dols-Icardo, Oriol, Sirisi, Sonia, Cortés-Vicente, Elena, Turon-Sans, Janina, de Luna, Noemi, Blesa, Rafael, Belbin, Olivia, Montal, Victor, Alcolea, Daniel, Fortea, Juan, Lleó, Alberto, Rojas-García, Ricard, Illán-Gala, Ignacio

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) lie at opposing ends of a clinical, genetic, and neuropathological continuum…”
Get full text

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease by NOGALES-GADEA, Gisela, PINOS, Tomàs, ANDREU, Antoni L, LUCIA, Alejandro, ARENAS, Joaquín, CAMARA, Yolanda, BRULL, Astrid, DE LUNA, Noemí, MARTIN, Miguel A, GARCIA-ARUMI, Elena, MARTI, Ramon

“…McArdle disease (glycogenosis type V), the most common muscle glycogenosis, is a recessive disorder caused by mutations in PYGM, the gene encoding…”
Get full text

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes by Fernández-Simón, Esther, Lleixà, Cinta, Suarez-Calvet, Xavier, Diaz-Manera, Jordi, Illa, Isabel, Gallardo, Eduard, de Luna, Noemí

“…Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the…”
Get full text

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy by Gallardo, Eduard, de Luna, Noemi, Diaz-Manera, Jordi, Rojas-García, Ricardo, Gonzalez-Quereda, Lidia, Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel

“…Dysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because…”
Get full text

Absence of p.R50X Pygm read-through in McArdle disease cellular models by Tarrasó, Guillermo, Real-Martinez, Alberto, Parés, Marta, Romero-Cortadellas, Lídia, Puigros, Laura, Moya, Laura, de Luna, Noemí, Brull, Astrid, Martín, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro, Andreu, Antoni L, Barquinero, Jordi, Vissing, John, Krag, Thomas O, Pinós, Tomàs

“…McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We…”
Get full text

Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation “in Vitro” by de Luna, Noemí, Gallardo, Eduard, Soriano, Mario, Dominguez-Perles, Raúl, de la Torre, Carolina, Rojas-García, Ricardo, García-Verdugo, Jose M., Illa, Isabel

“…Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy. Dysferlin may be involved in muscle repair and differentiation. We compared…”
Get full text

Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis by Suárez-Calvet, Xavier, Alonso-Pérez, Jorge, Castellví, Ivan, Carrasco-Rozas, Ana, Fernández-Simón, Esther, Zamora, Carlos, Martínez-Martínez, Laura, Alonso-Jiménez, Alicia, Rojas-García, Ricardo, Turón, Joana, Querol, Luis, de Luna, Noemi, Milena-Millan, Ana, Corominas, Héctor, Castillo, Diego, Cortés-Vicente, Elena, Illa, Isabel, Gallardo, Eduard, Díaz-Manera, Jordi

“…To describe the clinical, serologic and histologic features of a cohort of patients with brachio-cervical inflammatory myopathy (BCIM) associated with systemic…”
Get full text