Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency
Laemmle, Alexander, Poms, Martin, Hsu, Bernadette, Borsuk, Mariia, Rüfenacht, Véronique, Robinson, Joshua, Sadowski, Martin C., Nuoffer, Jean‐Marc, Häberle, Johannes, Willenbring, Holger
Published in Hepatology (Baltimore, Md.) (01.09.2022)
Published in Hepatology (Baltimore, Md.) (01.09.2022)
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Journal Article
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
Amini, Poorya, Stojkov, Darko, Felser, Andrea, Jackson, Christopher B, Courage, Carolina, Schaller, André, Gelman, Laurent, Soriano, Maria Eugenia, Nuoffer, Jean-Marc, Scorrano, Luca, Benarafa, Charaf, Yousefi, Shida, Simon, Hans-Uwe
Published in Nature communications (27.07.2018)
Published in Nature communications (27.07.2018)
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Journal Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M. Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, vom Dahl, Stephan, Ziagaki, Athanasia, Zschocke, Johannes, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.05.2023)
Published in Journal of inherited metabolic disease (01.05.2023)
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Journal Article
Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease
Breuss, Alexander, Strasser, Marco, Nuoffer, Jean‐Marc, Klein, Andrea, Perret‐Hoigné, Eveline, Felder, Christine, Stauffer, Ruth, Wolf, Peter, Riener, Robert, Gautschi, Matthias
Published in Journal of sleep research (18.03.2024)
Published in Journal of sleep research (18.03.2024)
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Journal Article
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1H HR‐MAS NMR
Meyer, Christoph, Hertig, Damian, Arnold, Janine, Urzi, Christian, Kurth, Sandra, Mayr, Johannes A., Schaller, André, Vermathen, Peter, Nuoffer, Jean‐Marc
Published in Journal of inherited metabolic disease (01.03.2024)
Published in Journal of inherited metabolic disease (01.03.2024)
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Journal Article
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three‐dimensional organotypic brain cell cultures
Diez‐Fernandez, Carmen, Hertig, Damian, Loup, Marc, Diserens, Gaelle, Henry, Hugues, Vermathen, Peter, Nuoffer, Jean‐Marc, Häberle, Johannes, Braissant, Olivier
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Journal Article
Metabolomics reveals tepotinib‐related mitochondrial dysfunction in MET‐activating mutations‐driven models
Poliaková, Michaela, Felser, Andrea, Pierzchala, Katarzyna, Nuoffer, Jean‐Marc, Aebersold, Daniel Matthias, Zimmer, Yitzhak, Zamboni, Nicola, Medová, Michaela
Published in The FEBS journal (01.07.2019)
Published in The FEBS journal (01.07.2019)
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Journal Article
PPAR-γ regulates the effector function of human T helper 9 cells by promoting glycolysis
Bertschi, Nicole L, Steck, Oliver, Luther, Fabian, Bazzini, Cecilia, von Meyenn, Leonhard, Schärli, Stefanie, Vallone, Angela, Felser, Andrea, Keller, Irene, Friedli, Olivier, Freigang, Stefan, Begré, Nadja, Radonjic-Hoesli, Susanne, Lamos, Cristina, Gabutti, Max Philip, Benzaquen, Michael, Laimer, Markus, Simon, Dagmar, Nuoffer, Jean-Marc, Schlapbach, Christoph
Published in Nature communications (29.04.2023)
Published in Nature communications (29.04.2023)
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Journal Article
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)
Laemmle, Alexander, Gallagher, Renata C, Keogh, Adrian, Stricker, Tamar, Gautschi, Matthias, Nuoffer, Jean-Marc, Baumgartner, Matthias R, Häberle, Johannes
Published in PloS one (12.04.2016)
Published in PloS one (12.04.2016)
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Journal Article
Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR
Urzì, Christian, Hertig, Damian, Meyer, Christoph, Maddah, Sally, Nuoffer, Jean-Marc, Vermathen, Peter
Published in International journal of molecular sciences (12.06.2022)
Published in International journal of molecular sciences (12.06.2022)
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Journal Article
ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics
Liu, He, He, Zhaoyue, Germič, Nina, Ademi, Hyrijie, Frangež, Živa, Felser, Andrea, Peng, Shuang, Riether, Carsten, Djonov, Valentin, Nuoffer, Jean-Marc, Bovet, Cédric, Mlinarič-Raščan, Irena, Zlobec, Inti, Fiedler, Martin, Perren, Aurel, Simon, Hans-Uwe
Published in Cell death and differentiation (01.06.2020)
Published in Cell death and differentiation (01.06.2020)
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Journal Article
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement
Courage, Carolina, Jackson, Christopher B., Hahn, Dagmar, Euro, Liliya, Nuoffer, Jean‐Marc, Gallati, Sabina, Schaller, André
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Journal Article
A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency
Srinivasan, Raghuraman C., Zabulica, Mihaela, Hammarstedt, Christina, Wu, Tingting, Gramignoli, Roberto, Kannisto, Kristina, Ellis, Ewa, Karadagi, Ahmad, Fingerhut, Ralph, Allegri, Gabriella, Rüfenacht, Véronique, Thöny, Beat, Häberle, Johannes, Nuoffer, Jean‐Marc, Strom, Stephen C.
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Journal Article
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia
Korner, Mirjam, Kälin, Sonja, Zweifel-Zehnder, Antoinette, Fankhauser, Niklaus, Nuoffer, Jean-Marc, Gautschi, Matthias
Published in Orphanet journal of rare diseases (26.02.2019)
Published in Orphanet journal of rare diseases (26.02.2019)
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Journal Article
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
Mathis, Déborah, Prost, Jean‐Christophe, Maeder, Gabriela, Arackal, Liya, Zhang, Haoyue, Kurth, Sandra, Freiburghaus, Katrin, Nuoffer, Jean‐Marc
Published in JIMD reports (01.03.2024)
Published in JIMD reports (01.03.2024)
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Journal Article
Exercise Attenuates the Transition from Fatty Liver to Steatohepatitis and Reduces Tumor Formation in Mice
Guarino, Maria, Kumar, Pavitra, Felser, Andrea, Terracciano, Luigi M., Guixé-Muntet, Sergi, Humar, Bostjan, Foti, Michelangelo, Nuoffer, Jean-Marc, St-Pierre, Marie V., Dufour, Jean-François
Published in Cancers (29.05.2020)
Published in Cancers (29.05.2020)
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Journal Article
Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems
Udhane, Sameer S, Legeza, Balazs, Marti, Nesa, Hertig, Damian, Diserens, Gaëlle, Nuoffer, Jean-Marc, Vermathen, Peter, Flück, Christa E
Published in Scientific reports (17.08.2017)
Published in Scientific reports (17.08.2017)
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Journal Article
Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene
Balmer, Cécile, Pandey, Amit V., Rüfenacht, Véronique, Nuoffer, Jean-Marc, Fang, Ping, Wong, Lee-Jun, Häberle, Johannes
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Journal Article
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Rüegger, Corinne M., Lindner, Martin, Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Das, Anibh, Gautschi, Matthias, Glahn, Esther M., Grünert, Sarah C., Hennermann, Julia, Hochuli, Michel, Huemer, Martina, Karall, Daniela, Kölker, Stefan, Lachmann, Robin H., Lotz-Havla, Amelie, Möslinger, Dorothea, Nuoffer, Jean-Marc, Plecko, Barbara, Rutsch, Frank, Santer, René, Spiekerkoetter, Ute, Staufner, Christian, Stricker, Tamar, Wijburg, Frits A., Williams, Monique, Burgard, Peter, Häberle, Johannes
Published in Journal of inherited metabolic disease (01.01.2014)
Published in Journal of inherited metabolic disease (01.01.2014)
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