Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Janine Reunert"'
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:
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:
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
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
Autor:
Sabrina Klank, Christina van Stein, Marianne Grüneberg, Chris Ottolenghi, Kerstin K. Rauwolf, Jürgen Grebe, Janine Reunert, Erik Harms, Thorsten Marquardt
Publikováno v:
Pharmaceutics, Vol 15, Iss 7, p 1851 (2023)
Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter, it can exit from
Externí odkaz:
https://doaj.org/article/859fc65246174d6086cf631b3dd3dd5a
Autor:
Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
Abstract In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG. Our paper “Dietary mannose suppl
Externí odkaz:
https://doaj.org/article/f064310920a14019a2b38a80436c504c
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Background PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation i
Externí odkaz:
https://doaj.org/article/013531f5d64644d5bb77a27f48f9d620
Autor:
Aziza Miriam Belkheir, Janine Reunert, Christiane Elpers, Lambert van den Heuvel, Richard Rodenburg, Anja Seelhöfer, Stephan Rust, Astrid Jeibmann, Michael Frosch, Thorsten Marquardt
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
ßIV-spectrin is a protein of the spectrin family which is involved in the organization of the cytoskeleton structure and is found in high quantity in the axon initial segment and the nodes of Ranvier. Together with ankyrin G, ßIV-spectrin is respon
Externí odkaz:
https://doaj.org/article/5ea2c2d167bc4ff88f141e7678fb8989
Autor:
Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100636- (2020)
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolis
Externí odkaz:
https://doaj.org/article/b409af361ccd45c5a331971fcb43ec41