Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Stephan Rust"'
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:
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:
Stefan Reimann, Martin K. Vollmer, Matthias Hill, Paul Schlauri, Myriam Guillevic, Dominik Brunner, Stephan Rust, Dominique Rust, Lukas Emmenegger
Publikováno v:
CHIMIA, Vol 74, Iss 3, Pp 136-141 (2020)
CFCs (chlorofluorocarbons) and other strong ozone-depleting halogenated organic trace gases were used in numerous industrial, household and agriculture applications. First atmospheric measurements of CFCs were performed in the 1970s, well ahead of th
Externí odkaz:
https://doaj.org/article/b7515ef4fce643ca99baf73c4ee02fd7
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
Autor:
Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 33-40 (2017)
Introduction: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and gro
Externí odkaz:
https://doaj.org/article/10d9db70a03446e5b7eab4cad03b3098
Autor:
Luisa Jasper, Pasquale Scarcia, Stephan Rust, Janine Reunert, Ferdinando Palmieri, Thorsten Marquardt
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 18, p 9929 (2021)
SLC25A36 is a pyrimidine nucleotide carrier playing an important role in maintaining mitochondrial biogenesis. Deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction. In h
Externí odkaz:
https://doaj.org/article/38c57aa01e97436cbbb69554600c217e
Autor:
Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt
Publikováno v:
EBioMedicine, Vol 4, Iss C, Pp 170-175 (2016)
Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for y
Externí odkaz:
https://doaj.org/article/51d7b9d47036446b8f31492c21889196
Autor:
Francisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, Anke L L Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J M Bindels, Joost G J Hoenderop
Publikováno v:
PLoS Genetics, Vol 10, Iss 4, p e1004267 (2014)
Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable
Externí odkaz:
https://doaj.org/article/ba2702b3eac748c798690519ee49464a