Understanding GPCR recognition and folding from NMR studies of fragments

por Marino, Jacopo, Walser, Reto, Poms, Martin, Zerbe, Oliver
Publicado 2018

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

por Mathis, Tamara, Poms, Martin, Köfeler, Harald, Gautschi, Matthias, Plecko, Barbara, Baumgartner, Matthias R., Hochuli, Michel
Publicado 2021

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy

por Crowther, Lisa M., Poms, Martin, Zandl‐Lang, Martina, Abela, Lucia, Hartmann, Hans, Seiler, Michelle, Mathis, Déborah, Plecko, Barbara
Publicado 2022

Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

por Laemmle, Alexander, Poms, Martin, Hsu, Bernadette, Borsuk, Mariia, Rüfenacht, Véronique, Robinson, Joshua, Sadowski, Martin C., Nuoffer, Jean‐Marc, Häberle, Johannes, Willenbring, Holger
Publicado 2021

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice

por Bazo, Andrea, Lantero, Aquilino, Mauleón, Itsaso, Neri, Leire, Poms, Martin, Häberle, Johannes, Ricobaraza, Ana, Bénichou, Bernard, Combal, Jean-Philippe, Gonzalez-Aseguinolaza, Gloria, Aldabe, Rafael
Publicado 2022

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

por Lim, Pei Jin, Marfurt, Severin, Lindert, Uschi, Opitz, Lennart, Ndarugendamwo, Timothée, Srikanthan, Pakeerathan, Poms, Martin, Hersberger, Martin, Langhans, Claus-Dieter, Haas, Dorothea, Rohrbach, Marianne, Giunta, Cecilia
Publicado 2021

Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism

por Makris, Georgios, Kayhan, Semih, Kreuzer, Marvin, Rüfenacht, Véronique, Faccin, Erica, Underhaug, Jarl, Diez‐Fernandez, Carmen, Knobel, Philip A., Poms, Martin, Gougeard, Nadine, Rubio, Vicente, Martinez, Aurora, Pruschy, Martin, Häberle, Johannes
Publicado 2023

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

por Forny, Patrick, Bonilla, Ximena, Lamparter, David, Shao, Wenguang, Plessl, Tanja, Frei, Caroline, Bingisser, Anna, Goetze, Sandra, van Drogen, Audrey, Harshman, Keith, Pedrioli, Patrick G. A., Howald, Cedric, Poms, Martin, Traversi, Florian, Bürer, Céline, Cherkaoui, Sarah, Morscher, Raphael J., Simmons, Luke, Forny, Merima, Xenarios, Ioannis, Aebersold, Ruedi, Zamboni, Nicola, Rätsch, Gunnar, Dermitzakis, Emmanouil T., Wollscheid, Bernd, Baumgartner, Matthias R., Froese, D. Sean
Publicado 2023

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

por Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita
Publicado 2018