Zobrazeno 1 - 10
of 218
pro vyhledávání: '"Thorsten, Marquardt"'
Autor:
Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 417-425 (2024)
Abstract SLC25A42 encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental de
Externí odkaz:
https://doaj.org/article/ced1ad9d333f46d5ab7a3cd2c977283d
Autor:
Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited me
Externí odkaz:
https://doaj.org/article/e200e6208cf9442cbf0392820af77732
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-7 (2023)
Traditional guidelines for type 1 diabetics do not restrict carbohydrates to improve clinical outcomes for patients. This paper highlights the favorable blood glucose control outcomes when a type 1 diabetic focuses on caloric intake from protein and
Externí odkaz:
https://doaj.org/article/376f932c0f0c4a0c916f436d07fa17e1
Autor:
Viktoria L. E. Funke, Sarah Sandmann, Viktoria Melcher, Jochen Seggewiss, Judit Horvath, Natalie Jäger, Marcel Kool, David T. W. Jones, Stefan M. Pfister, Till Milde, Stefan Rutkowski, Martin Mynarek, Julian Varghese, Ronald Sträter, Stephan Rust, Anja Seelhöfer, Janine Reunert, Barbara Fiedler, Ulrich Schüller, Thorsten Marquardt, Kornelius Kerl
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-4 (2023)
Abstract To date, several studies on genomic events underlying medulloblastoma (MB) biology have expanded our understanding of this tumour entity and led to its division into four groups—WNT, SHH, group 3 (G3) and group 4 (G4). However, there is li
Externí odkaz:
https://doaj.org/article/4d42ac6cc3f343f1a26382b1265c71a1
Autor:
Lea-Sophie Berendes, Petra Schulze Westhoff, Helmut Wittkowski, Anja Seelhöfer, Georg Varga, Thorsten Marquardt, Julien H. Park
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101038- (2024)
Heme oxygenase 1 (HO-1) is the pivotal catalyst for the primary and rate-determining step in heme catabolism, playing a crucial role in mitigating heme-induced oxidative damage. Pathogenic variants in the HMOX1 gene which encodes HO-1, are responsibl
Externí odkaz:
https://doaj.org/article/6d2d3eb3c28949e88d9a15193434753f
Autor:
Viktoria L. E. Funke, Carolin Walter, Viktoria Melcher, Lanying Wei, Sarah Sandmann, Marc Hotfilder, Julian Varghese, Natalie Jäger, Marcel Kool, David T. W. Jones, Stefan M. Pfister, Till Milde, Martin Mynarek, Stefan Rutkowski, Jochen Seggewiss, Daniela Jeising, Flavia W. de Faria, Thorsten Marquardt, Thomas K. Albert, Ulrich Schüller, Kornelius Kerl
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-16 (2023)
Abstract Background Cancer metabolism influences multiple aspects of tumorigenesis and causes diversity across malignancies. Although comprehensive research has extended our knowledge of molecular subgroups in medulloblastoma (MB), discrete analysis
Externí odkaz:
https://doaj.org/article/293ede42057e4448bff90666e15848b1
Autor:
Maximilian Penkl, Johannes A. Mayr, René G. Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
Publikováno v:
Metabolites, Vol 14, Iss 4, p 238 (2024)
Citric acid cycle deficiencies are extremely rare due to their central role in energy metabolism. The ACO2 gene encodes the mitochondrial isoform of aconitase (aconitase 2), the second enzyme of the citric acid cycle. Approximately 100 patients with
Externí odkaz:
https://doaj.org/article/087253efa6184f62810ed817033c5773
Publikováno v:
Pharmaceuticals, Vol 16, Iss 9, p 1199 (2023)
Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused by a deficiency of the enzyme acid α-glucosidase (GAA). Children with the severe infantile form do not survive beyond the first year of life without treatment. S
Externí odkaz:
https://doaj.org/article/76a7458b70fd4211ac0cb416b3c08fa4
Autor:
Christina van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, Jürgen Grebe, Janine Reunert, Erik Harms, Thorsten Marquardt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function. A lifelong therapy with the aminothiol cysteamine can delay the development
Externí odkaz:
https://doaj.org/article/ddffc458daa14fa99fefae8128571e38
Autor:
Lisa Kemme, Marianne Grüneberg, Janine Reunert, Stephan Rust, Julien Park, Cordula Westermann, Yoshinao Wada, Oliver Schwartz, Thorsten Marquardt
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 42-55 (2021)
Abstract MAN1B1‐CDG is a multisystem disorder caused by mutations in MAN1B1, encoding the endoplasmic reticulum mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase. A defect leads to dysfunction within the degradation of misfolded glycoproteins.
Externí odkaz:
https://doaj.org/article/c764656dc6f14bb5be31535d647bbb93