Zobrazeno 1 - 10
of 345
pro vyhledávání: '"Jean-Marc Nuoffer"'
Autor:
Déborah Mathis, Jean‐Christophe Prost, Gabriela Maeder, Liya Arackal, Haoyue Zhang, Sandra Kurth, Katrin Freiburghaus, Jean‐Marc Nuoffer
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 116-123 (2024)
Abstract Mucopolysaccharidoses (MPS) screening is tedious and still performed by analysis of total glycosaminoglycans (GAG) using 1,9‐dimethylmethylene blue (DMB) photometric assay, although false positive and negative tests have been reported. Ana
Externí odkaz:
https://doaj.org/article/a05b3668e66f42f4ad4caaaabff11f58
Autor:
Nicole L. Bertschi, Oliver Steck, Fabian Luther, Cecilia Bazzini, Leonhard von Meyenn, Stefanie Schärli, Angela Vallone, Andrea Felser, Irene Keller, Olivier Friedli, Stefan Freigang, Nadja Begré, Susanne Radonjic-Hoesli, Cristina Lamos, Max Philip Gabutti, Michael Benzaquen, Markus Laimer, Dagmar Simon, Jean-Marc Nuoffer, Christoph Schlapbach
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract T helper 9 (TH9) cells promote allergic tissue inflammation and express the type 2 cytokines, IL-9 and IL-13, as well as the transcription factor, PPAR-γ. However, the functional role of PPAR-γ in human TH9 cells remains unknown. Here, we
Externí odkaz:
https://doaj.org/article/19e9bace06d847ceba581b56d780dbb5
Publikováno v:
Case Reports in Neurology, Pp 1-1 (2024)
Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old wo
Externí odkaz:
https://doaj.org/article/510ee4c08f2541cfb682d79ff643a968
Autor:
Markus Gschwind, Nuria Garcia Segarra, André Schaller, Ramona Bolognini, Jean‐Marc Nuoffer, Raphael Hourez, Manuel Deprez, Benoit Lhermitte, Philippe Maeder, Christel Tran, Thierry Kuntzer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 888-892 (2022)
Abstract We present a patient who developed, after an early‐onset, a stable course of spastic paraplegia and ataxia for 4 decades and eventually succumbed to two episodes of postinfectious lactic acidosis. Diagnostic workup including muscle biopsy
Externí odkaz:
https://doaj.org/article/d471207146204be7b99a31d25da12a72
Publikováno v:
Pharmaceutics, Vol 15, Iss 9, p 2324 (2023)
Porphyrinic photosensitizers (PSs) and their nano-sized polymer-based carrier systems are required to exhibit low dark toxicity, avoid side effects, and ensure high in vivo tolerability. Yet, little is known about the intracellular fate of PSs during
Externí odkaz:
https://doaj.org/article/775482b842344863bc765e3830de08fc
Autor:
Nicolas Melin, Tural Yarahmadov, Daniel Sanchez-Taltavull, Fabienne E. Birrer, Tess M. Brodie, Benoît Petit, Andrea Felser, Jean-Marc Nuoffer, Matteo Montani, Marie-Catherine Vozenin, Evelyn Herrmann, Daniel Candinas, Daniel M. Aebersold, Deborah Stroka
Publikováno v:
JHEP Reports, Vol 4, Iss 7, Pp 100508- (2022)
Background & Aims: High-dose irradiation is an essential tool to help control the growth of hepatic tumors, but it can cause radiation-induced liver disease (RILD). This life-threatening complication manifests itself months following radiation therap
Externí odkaz:
https://doaj.org/article/0749ed9dab7d4d07a64da355fcaf6f38
Autor:
Alexander Laemmle, Andrea Lisa Steck, André Schaller, Sandra Kurth, Eveline Perret Hoigné, Andrea Deborah Felser, Nedelina Slavova, Claudia Salvisberg, Mariana Atencio, Fanny Mochel, Jean-Marc Nuoffer, Matthias Gautschi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100814- (2021)
Mitochondrial malate dehydrogenase (MDH2) deficiency (MDH2D) is an ultra-rare disease with only three patients described in literature to date. MDH2D leads to an interruption of the tricarboxylic acid (TCA) cycle and malate-aspartate shuttle (MAS) an
Externí odkaz:
https://doaj.org/article/c0f2376680d244218a06e9e9059ae85c
Autor:
Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer, Matthias Gautschi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-
Externí odkaz:
https://doaj.org/article/3cd5bb9906f049dea76a31dc03a6cd1e
Autor:
Mara Grassi, Bernard Laubscher, Amit V. Pandey, Sibylle Tschumi, Franziska Graber, André Schaller, Marco Janner, Daniel Aeberli, Ekkehard Hewer, Jean-Marc Nuoffer, Matthias Gautschi
Publikováno v:
Molecular Syndromology. :1-15
Introduction: The p.(Arg85Trp) variant-specific phenotype of hepatocyte nuclear factor 4 alpha shows a complex clinical picture affecting three different organ systems and their corresponding metabolisms. Little is known about the molecular mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f838b57296a534f8c4347ae0107e8212
https://doi.org/10.1159/000529306
https://doi.org/10.1159/000529306
Autor:
Poorya Amini, Darko Stojkov, Andrea Felser, Christopher B. Jackson, Carolina Courage, André Schaller, Laurent Gelman, Maria Eugenia Soriano, Jean-Marc Nuoffer, Luca Scorrano, Charaf Benarafa, Shida Yousefi, Hans-Uwe Simon
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
Optic atrophy 1 (OPA1) is known to be important for mitochondrial fusion and structural integrity. Here, using OPA1 knockout mice, the authors show a detrimental effect on host defense capabilities against pathogen infections. This study reports a cr
Externí odkaz:
https://doaj.org/article/d6d65756387f4a38a5e16d6f0ce5f658