Výsledky vyhledávání - "Guillem Plasencia"

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Autor: Edith Said, Guillem Plasencia, Bryn D. Webb, Laura Castilla-Vallmanya, Daniel Grinberg, Bruce D. Gelb, Ulrich Brinkmann, Klaus Mayer, Roser Urreizti, Susanna Balcells, Neal Cody, Gilad D. Evrony

Publikováno v: Eur J Hum Genet

DPH1 variants have been associated with an ultra-rare and severe neurodevelopmental disorder, mainly characterized by variable developmental delay, short stature, dysmorphic features, and sparse hair. We have identified four new patients (from two di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af65df32ed93337e4dfa079c912b9cc4
https://europepmc.org/articles/PMC6906407/

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Enhancing Throughput of Glutathione Adduct Formation Studies and Structural Identification Using a Software-Assisted Workflow Based on High-Resolution Mass Spectrometry (HRMS) Data

Autor: Axel Pähler, Guillem Plasencia, Esra Nurten Cece-Esencan, Fabien Fontaine, Marieke Teppner, Andreas Brink, Ismael Zamora

Publikováno v: SM Analytical and Bioanalytical Techniques. 1:1-12

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7aa2050be9cea49020a914195ef41707
https://doi.org/10.36876/smabt.1002

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Software-aided cytochrome P450 reaction phenotyping and kinetic analysis in early drug discovery

Autor: Guillem Plasencia, Fabien Fontaine, Axel Pähler, Marieke Teppner, Esra Nurten Cece-Esencan, Ismael Zamora, Andreas Brink

Publikováno v: Rapid Communications in Mass Spectrometry. 30:301-310

Rationale Cytochrome P450 (CYP450) reaction phenotyping (CRP) and kinetic studies are essential in early drug discovery to determine which metabolic enzymes react with new drug entities. A new semi-automated computer-assisted workflow for CRP is intr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::077b950cd19f780236e7162c47a46679
https://doi.org/10.1002/rcm.7429

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Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Autor: Roser Urreizti, Klaus Mayer, Gilad D. Evrony, Edith Said, Laura Castilla-Vallmanya, Neal A. L. Cody, Guillem Plasencia, Bruce D. Gelb, Daniel Grinberg, Ulrich Brinkmann, Bryn D. Webb, Susanna Balcells

Publikováno v: European Journal of Human Genetics. 28:138-138

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5dac031d84c13ab025af6707105c3490
https://doi.org/10.1038/s41431-019-0394-5

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Software-aided cytochrome P450 reaction phenotyping and kinetic analysis in early drug discovery

Autor: Esra Nurten, Cece-Esencan, Fabien, Fontaine, Guillem, Plasencia, Marieke, Teppner, Andreas, Brink, Axel, Pähler, Ismael, Zamora

Publikováno v: Rapid communications in mass spectrometry : RCM. 30(2)

Cytochrome P450 (CYP450) reaction phenotyping (CRP) and kinetic studies are essential in early drug discovery to determine which metabolic enzymes react with new drug entities. A new semi-automated computer-assisted workflow for CRP is introduced in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d35f15f6533ba6c8669a678106f2fc08
https://pubmed.ncbi.nlm.nih.gov/26689160

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Localization of an exonic splicing enhancer responsible for mammalian natural trans-splicing

Autor: Adolf Graessmann, Fausto G. Hegardt, Dolors Serra, Guillermina Asins, Guillem Plasencia, Carles Codony, Montserrat Bach-Elias, Concha Caudevilla, Ruth Román

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Scopus-Elsevier

Carnitine octanoyltransferase (COT) produces three different transcripts in rat through cis- and trans-splicing reactions, which may lead to the synthesis of two proteins. Generation of the three COT transcripts in rat does not depend on sex, develop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dea5559fe8865abae5c22737b456d5e
https://doi.org/10.1093/nar/29.14.3108

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High-throughput, computer assisted, specific MetID. A revolution for drug discovery

Autor: Blanca Serra, Guillem Plasencia, Fabien Fontaine, Ismael Zamora

Publikováno v: Drug discovery today. Technologies. 10(1)

One of the key factors in drug discovery is related to the metabolic properties of the lead compound, which may influence the bioavailability of the drug, its therapeutic window, and unwanted side-effects of its metabolites. Therefore, it is of criti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4be97e8188b7883e845a18e0701fd74
https://pubmed.ncbi.nlm.nih.gov/24050248

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SHOP: a method for structure-based fragment and scaffold hopping

Autor: Guillem Plasencia, Ismael Zamora, Manuel Pastor, Fabien Fontaine, Simon Cross

Publikováno v: ChemMedChem. 4(3)

A new method for fragment and scaffold replacement is presented that generates new families of compounds with biological activity, using GRID molecular interaction fields (MIFs) and the crystal structure of the targets. In contrast to virtual screeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1759e233b161faaa307a383e14e8babd
https://pubmed.ncbi.nlm.nih.gov/19152365

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