Search Results - "Andreu, A L"

Influence of Mitochondrial Genetics on the Mitochondrial Toxicity of Linezolid in Blood Cells and Skin Nerve Fibers by Garrabou, G, Soriano, À, Pinós, T, Casanova-Mollà, J, Pacheu-Grau, D, Morén, C, García-Arumí, E, Morales, M, Ruiz-Pesini, E, Catalán-Garcia, M, Milisenda, J C, Lozano, E, Andreu, A L, Montoya, J, Mensa, J, Cardellach, F

“…The antibiotic linezolid is a ribosomal inhibitor with excellent efficacy. Although the administration period has been reduced to 28 days, side effects,…”
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Effect of an ambulatory diagnostic and treatment programme in patients with sleep apnoea by ANDREU, A. L, CHINER, E, SANCHO-CHUST, J. N, PASTOR, E, LLOMBART, M, GOMEZ-MERINO, E, SENENT, C, BARBE, F

“…The aim of this study to evaluate the efficacy of a home-based programme on clinical response, continuous positive airway pressure (CPAP) compliance and cost…”
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Infusion of platelets transiently reduces nucleoside overload in MNGIE by LARA, M. C, WEISS, B, ILLA, I, MADOZ, P, MASSUET, L, ANDREU, A. L, VALENTINO, M. L, ANIKSTER, Y, HIRANO, M, MARTI, R

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of…”
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Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE by Torres-Torronteras, J, Gómez, A, Eixarch, H, Palenzuela, L, Pizzorno, G, Hirano, M, Andreu, A L, Barquinero, J, Martí, R

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the TYMP gene, which encodes thymidine…”
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Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome by Blanco‐Grau, A., Bonaventura‐Ibars, I., Coll‐Cantí, J., Melià, M. J., Martinez, R., Martínez‐Gallo, M., Andreu, A. L., Pinós, T., García‐Arumí, E.

“…Mutations in the ATP6 gene are reported to be associated with Leber hereditary optic neuropathy, bilateral striatal necrosis, coronary atherosclerosis risk and…”
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NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein by López-Gallardo, E, Solano, A, Herrero-Martín, M D, Martínez-Romero, I, Castaño-Pérez, M D, Andreu, A L, Herrera, A, López-Pérez, M J, Ruiz-Pesini, E, Montoya, J

“…Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase…”
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA by Andreu, Antoni L, Hanna, Michael G, Reichmann, Heinz, Bruno, Claudio, Penn, Audrey S, Tanji, Kurenai, Pallotti, Francesco, Iwata, So, Iwata, Momi, Bonilla, Eduardo, Lach, Boleslaw, Morgan-Hughes, John, Shanske, Sara, Sue, Carolyn M, Pulkes, Teeratorn, Siddiqui, Asra, Clark, John B, Land, John, Schaefer, Jochen, DiMauro, Salvatore

“…Exercise intolerance is a common symptom of the encephalomyopathies that are associated with mutations in mitochondrial DNA (mtDNA). 1 , 2 These usually…”
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Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA by García-Consuegra, I, Rubio, J C, Nogales-Gadea, G, Bautista, J, Jiménez, S, Cabello, A, Lucía, A, Andreu, A L, Arenas, J, Martin, M A

“…To identify pathogenic mutant alleles of the PYGM gene in "genetic manifesting heterozygous" patients with McArdle disease-that is, those in whom we could only…”
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Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease by FERNANDEZ-CADENAS, I, ANDREU, A. L, GAMEZ, J, GONZALO, R, MARTIN, M. A, RUBIO, J. C, ARENAS, J

“…The authors report the molecular findings in a patient with McArdle disease who harbored a silent polymorphism (K608K) in the myophosphorylase gene. cDNA…”
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Mitochondrial DNA oxidation and manganese superoxide dismutase activity in peripheral blood mononuclear cells from type 2 diabetic patients by García-Ramírez, M, Francisco, G, García-Arumí, E, Hernández, C, Martínez, R, Andreu, A.L, Simó, R

“…Abstract Aim To investigate the balance between parameters of oxidative stress and antioxidant defences in the mitochondria of peripheral blood mononuclear…”
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Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations by Nishino, Ichizo, Spinazzola, Antonella, Papadimitriou, Alexandros, Hammans, Simon, Steiner, Israel, Hahn, Cecil D., Connolly, Anne M., Verloes, Alain, Guimarães, João, Maillard, Ivan, Hamano, Hitoshi, Donati, M. Alice, Semrad, Carol E., Russell, James A., Andreu, Antonio L., Hadjigeorgiou, Giorgos M., Vu, Tuan H., Tadesse, Saba, Nygaard, Torbjoern G., Nonaka, Ikuya, Hirano, Ikuo, Bonilla, Eduardo, Rowland, Lewis P., DiMauro, Salvatore, Hirano, Michio

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility;…”
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Reversion of mtDNA depletion in a patient with TK2 deficiency by VILA, M. R, SEGOVIA-SILVESTRE, T, ANDREU, A. L, GAMEZ, J, MARINA, A, NAINI, A. B, MESEGUER, A, LOMBES, A, BONILLA, E, DIMAURO, S, HIRANO, M

“…Mutations in the thymidine kinase 2 (TK2) gene cause a myopathic form of the mitochondrial DNA depletion syndrome (MDS). Here, the authors report the unusual…”
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Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene by Sue, C M, Tanji, K, Hadjigeorgiou, G, Andreu, A L, Nishino, I, Krishna, S, Bruno, C, Hirano, M, Shanske, S, Bonilla, E, Fischel-Ghodsian, N, DiMauro, S, Friedman, R

“…Thirty-six of 43 maternally related members of a large African American family experienced hearing loss. A muscle biopsy specimen from the proband showed…”
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Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene by Andreu, A. L., Tanji, K., Bruno, C., Hadjigeorgiou, G. M., Sue, C. M., Jay, C., Ohnishi, T., Shanske, S., Bonilla, E., DiMauro, S.

“…We report the first molecular defect in an NADH‐dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no…”
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A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy by ANDREU, A. L, CHECCARELLI, N, IWATA, S, SHANSKE, S, DIMAURO, S

“…We describe a pathogenic mutation in the mitochondrial cytochrome b gene in a patient with a multisystem disorder presenting as histiocytoid cardiomyopathy in…”
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A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria by Andreu, A. L., Bruno, C., Dunne, T. C., Tanji, K., Shanske, S., Sue, C. M., Krishna, S., Hadjigeorgiou, G. M., Shtilbans, A., Bonilla, E., DiMauro, S.

“…We describe a new mitochondrial DNA mutation in the cytochrome b gene in a patient presenting with progressive exercise intolerance and myoglobinuria…”
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Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE by MARTIN, M. A, BLAZQUEZ, A, MARTI, R, BAUTISTA, J, LARA, M. C, CABELLO, A, CAMPOS, Y, BELDA, O, ANDREU, A. L, ARENAS, J

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McArdle disease: Another systemic low-inflammation disorder? by Lucia, Alejandro, Smith, Lucille, Naidoo, Melissa, González-Freire, Marta, Pérez, Margarita, Rubio, Juan C., Martín, Miguel A., Andreu, A.L., Arenas, Joaquín

“…McArdle disease is caused by inherited deficit of human muscle glycogen phosphorylase with subsequent blockade in muscle glycogenolysis. Patients usually…”
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Mobilisation of mesenchymal cells into blood in response to skeletal muscle injury by Ramírez, M, Lucia, A, Gómez-Gallego, F, Esteve-Lanao, J, Pérez-Martínez, A, Foster, C, Andreu, A L, Martin, M A, Madero, L, Arenas, J, García-Castro, J

“…Mesenchymal cells recruited to damaged tissues must circulate through the bloodstream. The absolute numbers of circulating mesenchymal stem cells (cMSCs) in…”
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Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA by GAMEZ, J, PLAYAN, A, ANDREU, A. L, BRUNO, C, NAVARRO, C, CERVERA, C, ARBOS, M. A, SCHWARTZ, S, ENRIQUEZ, J. A, MONTOYA, J

“…We describe familial multiple symmetric lipomatosis in a pedigree harboring the 8344 mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). The proband…”
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