Search Results - "Velazquez, Maria Natalia Rojas"

Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels by Rojas Velazquez, Maria Natalia, Noebauer, Mathias, Pandey, Amit V

“…Cytochrome P450 oxidoreductase (POR) is the redox partner of steroid and drug-metabolising cytochromes P450 located in the endoplasmic reticulum. Mutations in…”
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Biased cytochrome P450-mediated metabolism via small-molecule ligands binding P450 oxidoreductase by Jensen, Simon Bo, Thodberg, Sara, Parween, Shaheena, Moses, Matias E., Hansen, Cecilie C., Thomsen, Johannes, Sletfjerding, Magnus B., Knudsen, Camilla, Del Giudice, Rita, Lund, Philip M., Castaño, Patricia R., Bustamante, Yanet G., Velazquez, Maria Natalia Rojas, Jørgensen, Flemming Steen, Pandey, Amit V., Laursen, Tomas, Møller, Birger Lindberg, Hatzakis, Nikos S.

“…Metabolic control is mediated by the dynamic assemblies and function of multiple redox enzymes. A key element in these assemblies, the P450 oxidoreductase…”
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Variability in Loss of Multiple Enzyme Activities Due to the Human Genetic Variation P284T Located in the Flexible Hinge Region of NADPH Cytochrome P450 Oxidoreductase by Parween, Shaheena, Rojas Velazquez, Maria Natalia, Udhane, Sameer S., Kagawa, Norio, Pandey, Amit V.

“…Cytochromes P450 located in the endoplasmic reticulum require NADPH cytochrome P450 oxidoreductase (POR) for their catalytic activities. Mutations in POR cause…”
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Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis by Wróbel, Tomasz M, Sharma, Katyayani, Mannella, Iole, Oliaro-Bosso, Simonetta, Nieckarz, Patrycja, Du Toit, Therina, Voegel, Clarissa Daniela, Rojas Velazquez, Maria Natalia, Yakubu, Jibira, Matveeva, Anna, Therkelsen, Søren, Jørgensen, Flemming Steen, Pandey, Amit V, Pippione, Agnese C, Lolli, Marco L, Boschi, Donatella, Björkling, Fredrik

“…This study reports on the synthesis and evaluation of novel compounds replacing the nitrogen-containing heterocyclic ring on the chemical backbone structure of…”
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Synthesis and Structure-Activity Relationships of Novel Non-Steroidal CYP17A1 Inhibitors as Potential Prostate Cancer Agents by Wróbel, Tomasz M, Rogova, Oksana, Sharma, Katyayani, Rojas Velazquez, Maria Natalia, Pandey, Amit V, Jørgensen, Flemming Steen, Arendrup, Frederic S, Andersen, Kasper L, Björkling, Fredrik

“…Twenty new compounds, targeting CYP17A1, were synthesized, based on our previous work on a benzimidazole scaffold, and their biological activity evaluated…”
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Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency by Flück, Christa E., Parween, Shaheena, Velazquez, Maria Natalia Rojas, Pandey, Amit V.

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Exploring Novel Variants of the Cytochrome P450 Reductase Gene ( POR ) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays by Rojas Velazquez, Maria Natalia, Therkelsen, Søren, Pandey, Amit V

“…Cytochrome P450 oxidoreductase (POR) is an essential redox partner for steroid and drug-metabolizing cytochromes P450 located in the endoplasmic reticulum…”
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A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient by Rojas Velazquez, Maria Natalia, Blanco, Fabiola, Ayala-Lugo, Ana, Franco, Lady, Jolly, Valerie, Di Tore, Denisse, Martínez de Lapiscina, Idoia, Janner, Marco, Flück, Christa E, Pandey, Amit V

“…Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus…”
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Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype by Parween, Shaheena, Fernández-Cancio, Mónica, Benito-Sanz, Sara, Camats, Núria, Rojas Velazquez, Maria Natalia, López-Siguero, Juan-Pedro, Udhane, Sameer S, Kagawa, Norio, Flück, Christa E, Audí, Laura, Pandey, Amit V

“…Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in POR identified in a…”
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Impact of Common Polymorphic Variant A503V in POR on Drug Metabolism: Implications for POR Deficiency by Velazquez, Maria Natalia Rojas, Parween, Shaheena, Pandey, Amit V.

“…Abstract only…”
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Loss of protein stability and function caused by a single point mutation (P228L) in the Cytochrome P450 Oxidoreductase by Rojas Velazquez, Maria Natalia, Noebauer, Mathias, Pandey, Amit V.

“…Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug metabolizing cytochrome P450s located in the endoplasmic reticulum…”
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PMON52 Use of PDE5 Inhibitors as Potential Treatment for Isolated Growth Hormone Deficiency Caused by Alternate Splicing of GH1 Gene by Pandey, Amit V, Velazquez, Maria Natalia Rojas

“…Mutations in the GH1 gene cause isolated growth hormone deficiency (IGHD) by affecting production, secretion, and stability of growth hormone as well as its…”
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Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase by Velazquez, Maria Natalia Rojas, Parween, Shaheena, Udhane, Sameer S., Pandey, Amit V.

“…A broad spectrum of human diseases are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR). Cytochrome P450 proteins perform several…”
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A Novel Mutation in the IINSR/I Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient by Rojas Velazquez, Maria Natalia, Blanco, Fabiola, Ayala-Lugo, Ana, Franco, Lady, Jolly, Valerie, Di Tore, Denisse, Martínez de Lapiscina, Idoia, Janner, Marco, Flück, Christa E, Pandey, Amit V

“…Rabson–Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus…”
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