Search Results - "Gallego Villar, Lorena"

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia by Gallego-Villar, Lorena, Pérez-Cerdá, Celia, Pérez, Belén, Abia, David, Ugarte, Magdalena, Richard, Eva, Desviat, Lourdes R.

“…Propionic acidemia (PA), caused by a deficiency of the mitochondrial biotin dependent enzyme propionyl-CoA carboxylase (PCC) is one of the most frequent…”
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CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients by Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.

“…Background Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β‐synthase (CβS). The objective of this…”
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Analysis of the Qatari R336C cystathionine β‐synthase protein in mice by Gupta, Sapna, Gallego‐Villar, Lorena, Wang, Liqun, Lee, Hyung‐Ok, Nasrallah, Gheyath, Al‐Dewik, Nader, Häberle, Johannes, Thöny, Beat, Blom, Henk J., Ben‐Omran, Tawfeg, Kruger, Warren D.

“…Classical homocystinuria is a recessive inborn error of metabolism caused by mutations in the cystathionine beta‐synthase (CBS) gene. The highest incidence of…”
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Azacitidine is effective for targeting leukemia-initiating cells in juvenile myelomonocytic leukemia by Krombholz, Christopher F., Gallego-Villar, Lorena, Sahoo, Sushree S., Panda, Pritam K., Wlodarski, Marcin W., Aumann, Konrad, Hartmann, Mark, Lipka, Daniel B., Daskalakis, Michael, Plass, Christoph, Niemeyer, Charlotte M., Erlacher, Miriam, Flotho, Christian

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A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver by Gallego-Villar, Lorena, Viecelli, Hiu Man, Pérez, Belén, Harding, Cary O, Ugarte, Magdalena, Thöny, Beat, Desviat, Lourdes R

“…We have previously demonstrated the efficacy of antisense therapy for splicing defects in cellular models of metabolic diseases, suppressing the use of cryptic…”
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Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts by Gallego-Villar, Lorena, Pérez, Belén, Ugarte, Magdalena, Desviat, Lourdes R., Richard, Eva

“…•Seven antioxidants were evaluated for their capacity to reduce ROS in propionic acidemia (PA) cells.•Tiron, trolox, resveratrol and MitoQ significantly…”
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BH3 mimetics and azacitidine show synergistic effects on juvenile myelomonocytic leukemia by Wu, Ying, Zehnle, Patricia M. A., Rajak, Jovana, Koleci, Naile, Andrieux, Geoffroy, Gallego-Villar, Lorena, Aumann, Konrad, Boerries, Melanie, Niemeyer, Charlotte M., Flotho, Christian, Bohler, Sheila, Erlacher, Miriam

“…Juvenile myelomonocytic leukemia (JMML) is an aggressive hematopoietic disorder of infancy and early childhood driven by constitutively active RAS signaling…”
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Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector by Lee, Hyung-Ok, Gallego-Villar, Lorena, Grisch-Chan, Hiu Man, Häberle, Johannes, Thöny, Beat, Kruger, Warren D

“…Cystathionine β-synthase ( ) deficiency is a recessive inborn error of metabolism characterized by extremely elevated total homocysteine (tHcy) in the blood…”
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Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria by Desviat, Lourdes R., Pérez, Belén, Oyarzábal, Alfonso, Rivera-Barahona, Ana, Gallego-Villar, Lorena, Richard, Eva, Rodríguez-Pombo, Pilar

“…Inborn errors of metabolism (IEMs) are a group of monogenic disorders characterized by dysregulation of the metabolic networks that underlie development and…”
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5-Azacytidine Is Effective for Targeting Leukemia-Initiating Cells in Juvenile Myelomonocytic Leukemia by Krombholz, Christopher Felix, Gallego Villar, Lorena, Panda, Pritam Kumar, Sahoo, Sushree Sangita, Wlodarski, Marcin W., Lipka, Daniel B., Plass, Christoph, Niemeyer, Charlotte, Erlacher, Miriam, Flotho, Christian

“…Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm of young children that originates from early hematopoietic stem/progenitor cells. We…”
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Analysis of the Qatari R336C Cystathionine -Synthase Protein in Mice by Gupta, Sapna, Gallego-Villar, Lorena, Wang, Liqun, Lee, Hyung-Ok, Nasrallah, Gheyath, Al-Dewik, Nader, Häberle, Johannes, Thöny, Beat, Blom, Henk J, Ben-Omran, Tawfeg, Kruger, Warren D.

“…Classical homocystinuria is a recessive inborn error of metabolism caused by mutations in the cystathionine beta-synthase ( CBS ) gene. The highest incidence…”
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