10 results on '"Azpitarte, Margarita"'
Search Results
2. C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging
- Author
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Jaka, Oihane, Kramerova, Irina, Azpitarte, Margarita, López de Munain, Adolfo, Spencer, Melissa, and Sáenz, Amets
- Published
- 2012
- Full Text
- View/download PDF
3. ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A
- Author
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Jaka, Oihane, Azpitarte, Margarita, Paisán-Ruiz, Coro, Zulaika, Miren, Casas-Fraile, Leire, Sanz, Raúl, Trevisiol, Nathalie, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, de Munain, Adolfo López, and Sáenz, Amets
- Published
- 2014
- Full Text
- View/download PDF
4. DOES THE SEVERITY of THE LGMD2A PHENOTYPE in COMPOUND HETEROZYGOTES DEPEND on THE COMBINATION of MUTATIONS?
- Author
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Sáenz, Amets, Ono, Yasuko, Sorimachi, Hiroyuki, Goicoechea, Maria, Leturcq, France, Blázquez, Lorea, García-Bragado, Federico, Marina, Alberto, Poza, Juan José, Azpitarte, Margarita, Doi, Naoko, Urtasun, Miguel, Kaplan, Jean-Claude, and De Munain, Adolfo López
- Published
- 2011
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- View/download PDF
5. FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway
- Author
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Jaka, Oihane, primary, Casas-Fraile, Leire, additional, Azpitarte, Margarita, additional, Aiastui, Ana, additional, López de Munain, Adolfo, additional, and Sáenz, Amets, additional
- Published
- 2017
- Full Text
- View/download PDF
6. Gerri distrofia muskularra Gipuzkoan
- Author
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URTASUN, Miguel, POZA, Juan José, COBO, Ana María, AZPITARTE, Margarita, MARTÍ MASSÓ, José Félix, SÁENZ, Amets, LÓPEZ DE MUNAIN ARREGI, Adolfo, URTASUN, Miguel, POZA, Juan José, COBO, Ana María, AZPITARTE, Margarita, MARTÍ MASSÓ, José Félix, SÁENZ, Amets, and LÓPEZ DE MUNAIN ARREGI, Adolfo
- Abstract
Gracias a los avances producidos en la genética molecular, el concepto de Distro a Muscular Lumbar (LGMD) está cambiando rápidamente. Se han descrito diferentes loci y ha quedado probado que el síndrome de Distro a muscular Lumbar es heterogéneo. Hemos realizado un examen epidemiológico en Gipuzkoa y hemos encontrado la prevalencia mayor de LGMD descrita hasta la fecha: 69/106. La mutación en el gen Kalpaina3 que evidencian los afectados muestra características clínicas similares que son distintas a las características de otros grupos, lo cual posibilita un diagnóstico clínico preciso., Genetika molekularrean egindako aurrerapausoeri esker, Gerri Distro a muskularren (LGMD) kontzeptua azkar ari da aldatzen. Loci desberdinak deskribatu dira Gerri Distro muskularra sindrome heterogeneoa dela frogatuz. Azterketa epidemiologikoa burutu dugu Gipuzkoan eta gaurdaino deskribaturiko LGMD-en prebalentzirik altuena aurkitu dugu: 69/106. Kalpaina3 genean mutazioa duten gaisoek, antzeko ezaugarri klinikoak agertzen dituzte beste taldeen ezaugarriekiko desberdinak direlarik, horrela diagnostiko kliniko zehatza baimenduz., Grâce aux progrès qui ont été fait dans le domaine de la génétique moléculaire, le concept de Dystrophie Musculaire Lombaire (LGMC) est en train de changer rapidement. On a décrit différents loci et il a été prouvé que le syndrome de Dystrophie musculaire Lombaire est hétérogène. Nous avons réalisé un examen épidémiologique en Gipuzkoa et nous avons trouvé la plus importante prévalence de LGMD décrite jusqu'à cette date: 69/106. La mutation dans le gène Kalpaina3 que les personnes affectées mettent en évidence montre des caractéristiques cliniques similaires qui sont différentes des caractéristiques d'autres groupes, ce qui permet un diagnostique clinique précis., Thanks to the advances that have taken place in molecular genetics, the concept of Limb-Girdle Muscular Dystrophy (LGMD) is rapidly changing. Various loci have been described and it has been proved that the Limb-Girdle Muscular Dystrophy syndrome is heterogeneous. We have carried out an epidemiological examination in Gipuzkoa and we have found the highest LGMD prevalence described up to the present: 69/106. The mutation in gen Kalpaina3 displayed by those affected shows similar clinical characteristics to those of other groups, which makes a precise clinical diagnosis possible.
- Published
- 2016
7. Epilepsia eta Genetika
- Author
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URTASUN, Miguel, POZA, Juan José, COBO, Ana María, AZPITARTE, Margarita, MARTÍ MASSÓ, José Félix, MARTÍNEZ-GIL, Ángel, BAUTISTA ESPINAL, Juan, CARRERA, Edurne, SÁENZ, Amets, LÓPEZ DE MUNAIN ARREGI, Adolfo, URTASUN, Miguel, POZA, Juan José, COBO, Ana María, AZPITARTE, Margarita, MARTÍ MASSÓ, José Félix, MARTÍNEZ-GIL, Ángel, BAUTISTA ESPINAL, Juan, CARRERA, Edurne, SÁENZ, Amets, and LÓPEZ DE MUNAIN ARREGI, Adolfo
- Abstract
El aislamiento de determinados genes que intervienen en el origen de la epilepsia idiopática ha permitido una mejor clasi cación de la epilepsia. En el presente trabajo se da cuenta del examen clínico de dos familias con síndrome epiléptico. La primera muestra una epilepsia nocturna asociada al cromosoma 20q, que presenta una mutación en el gen (CHRNA4) de la subunidad 4 del receptor nicotínico de la acetilcolina. La segunda muestra una epilepsia lateral temporal autosómica dominante asociada al cromosoma 10q., Epilepsia idiopatikoen sorreran parte hartzen duten zenbait geneen isolaketak epilepsiaren sailkapena hobetzea baimendu du. Lan honetan sindrome epileptikoa duten bi sendiren ikerketa kliniko eta genetikoa aurkezten da. Lehenak, 20q kromosomari loturiko gau epilepsia frontala agertzen du, azetil kolinaren errezeptore nikotinikoaren 4 azpiunitatearen genean (CHRNA4) mutazio bat agertzen duelarik. Bigarrenak, 10q kromosomari loturiko autosomiko gainartzailea den epilepsia albo-tenporala agertzen du., L'isolement de certains gènes qui interviennent dans l'origine de l'épilepsie idiopathique a permis une meilleure classi cation de l'épilepsie. Dans ce travail on rend compte de l'examen clinique de deux familles qui souffrent du syndrome épileptique. La première montre une épilepsie nocturne associée au chromosome 20q, qui présente une mutation dans le gène (CHRNA4) de la sous-unité 4 du récepteur nicotinique de l'acétylcholine. La seconde montre une épilepsie latérale temporelle autosomique dominante associée au chromosome 10q., The isolating of certain genes that intervene in the origin of idiopathic epilepsy has allowed for a better classification of epilepsy as a whole. This work is about the clinical analysis of two families with an epileptic syndrome. The first family displays a nocturnal epilepsy associated to chromosome 20q, which has a mutation in gen (CHRNA4) of sub-unit á4 of the acetylcoline nicotinic receptor. The second family displays a dominant lateral temporal lobe and autosomal epilepsy associated to chromosome 10q.
- Published
- 2016
8. Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A
- Author
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Sáenz, Amets, Azpitarte, Margarita, Armañanzas Arnedillo, Ruben, Leturcq, France, Alzualde, Ainhoa, Inza Cano, Iñaki, García Bragado, Federico, Herran, Gaspar de la, Corcuera, Julian, Cabello, Ana, Navarro, Carmen, Torre, Carolina de la, Gallardo, Eduard, Illa, Isabel, López de Munain, Adolfo, Sáenz, Amets, Azpitarte, Margarita, Armañanzas Arnedillo, Ruben, Leturcq, France, Alzualde, Ainhoa, Inza Cano, Iñaki, García Bragado, Federico, Herran, Gaspar de la, Corcuera, Julian, Cabello, Ana, Navarro, Carmen, Torre, Carolina de la, Gallardo, Eduard, Illa, Isabel, and López de Munain, Adolfo
- Abstract
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 vivo substrates. The aim of this study was to identify the genes showing an altered expression in LGMD2A patients and the possible pathways they are implicated in. Ten muscle samples from LGMD2A patients with in which molecular diagnosis was ascertained were investigated using array technology to analyze gene expression profiling as compared to ten normal muscle samples. Upregulated genes were mostly those related to extracellular matrix (different collagens), cell adhesion (fibronectin), muscle development (myosins and melusin) and signal transduction. It is therefore suggested that different proteins located or participating in the costameric region are implicated in processes regulated by calpain 3 during skeletal muscle development. Genes participating in the ubiquitin proteasome degradation pathway were found to be deregulated in LGMD2A patients, suggesting that regulation of this pathway may be under the control of calpain 3 activity. As frizzled-related protein (FRZB) is upregulated in LGMD2A muscle samples, it could be hypothesized that β-catenin regulation is also altered at the Wnt signaling pathway, leading to an incorrect myogenesis. Conversely, expression of most transcription factor genes was downregulated (MYC, FOS and EGR1). Finally, the upregulation of IL-32 and immunoglobulin genes may induce the eosinophil chemoattraction explaining the inflammatory findings observed in presymptomatic stages. The obtained results try to shed some light on identification of novel therapeutic targets for limb-girdle muscular dystrophies
- Published
- 2008
9. Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A
- Author
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Sáenz, Amets, primary, Azpitarte, Margarita, additional, Armañanzas, Rubén, additional, Leturcq, France, additional, Alzualde, Ainhoa, additional, Inza, Iñaki, additional, García-Bragado, Federico, additional, De la Herran, Gaspar, additional, Corcuera, Julián, additional, Cabello, Ana, additional, Navarro, Carmen, additional, De la Torre, Carolina, additional, Gallardo, Eduard, additional, Illa, Isabel, additional, and de Munain, Adolfo López, additional
- Published
- 2008
- Full Text
- View/download PDF
10. Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A.
- Author
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Amets Sáenz, Azpitarte, Margarita, Armañanzas, Rubén, Leturcq, France, Alzualde, Ainhoa, Inza, Iñaki, García-Bragado, Federico, de la Herran, Gaspar, Corcuera, Julián, Cabello, Ana, Navarro, Carmen, de la Torre, Carolina, Gallardo, Eduard, Illa, Isabel, and de Munain, Adolfo López
- Subjects
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MUSCULAR dystrophy , *GENE expression , *EXTRACELLULAR matrix , *CELL adhesion , *MYOSIN , *COLLAGEN , *IMMUNOGLOBULINS - Abstract
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 vivo substrates. The aim of this study was to identify the genes showing an altered expression in LGMD2A patients and the possible pathways they are implicated in. Ten muscle samples from LGMD2A patients with in which molecular diagnosis was ascertained were investigated using array technology to analyze gene expression profiling as compared to ten normal muscle samples. Upregulated genes were mostly those related to extracellular matrix (different collagens), cell adhesion (fibronectin), muscle development (myosins and melusin) and signal transduction. It is therefore suggested that different proteins located or participating in the costameric region are implicated in processes regulated by calpain 3 during skeletal muscle development. Genes participating in the ubiquitin proteasome degradation pathway were found to be deregulated in LGMD2A patients, suggesting that regulation of this pathway may be under the control of calpain 3 activity. As frizzledrelated protein (FRZB) is upregulated in LGMD2A muscle samples, it could be hypothesized that β-catenin regulation is also altered at the Wnt signaling pathway, leading to an incorrect myogenesis. Conversely, expression of most transcription factor genes was downregulated (MYC, FOS and EGR1). Finally, the upregulation of IL-32 and immunoglobulin genes may induce the eosinophil chemoattraction explaining the inflammatory findings observed in presymptomatic stages. The obtained results try to shed some light on identification of novel therapeutic targets for limb-girdle muscular dystrophies. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
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