Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Ute Hehr"'
Autor:
Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1715-1731 (2024)
Abstract Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late‐onset phenotypes, symptoms are often milder and difficult t
Externí odkaz:
https://doaj.org/article/21c7a70980a149a8bbd8094c36ff92e6
Autor:
Jan Philipp Dobert, Simon Bub, Rebecca Mächtel, Dovile Januliene, Lisa Steger, Martin Regensburger, Sibylle Wilfling, Jia‐Xuan Chen, Mario Dejung, Sonja Plötz, Ute Hehr, Arne Moeller, Philipp Arnold, Friederike Zunke
Publikováno v:
Advanced Science, Vol 11, Iss 25, Pp n/a-n/a (2024)
Abstract Genetic variants of GBA1 can cause the lysosomal storage disorder Gaucher disease and are among the highest genetic risk factors for Parkinson's disease (PD). GBA1 encodes the lysosomal enzyme beta‐glucocerebrosidase (GCase), which orchest
Externí odkaz:
https://doaj.org/article/cd22eb01ce194bab9339786c96caca65
Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10
Autor:
Bernadett Kurz, MD, Kevin-Thomas Koschitzki, MD, Ute Hehr, MD, Ute Germer, MD, Julia Schreml, MD, Florian Langhammer, MD, Stephan Schreml, MD
Publikováno v:
JAAD Case Reports, Vol 35, Iss , Pp 74-76 (2023)
Externí odkaz:
https://doaj.org/article/9dc6b089fb0a42dda0a9ce5430fa2403
Autor:
Florian Krach, Judith Stemick, Tom Boerstler, Alexander Weiss, Ioannis Lingos, Stephanie Reischl, Holger Meixner, Sonja Ploetz, Michaela Farrell, Ute Hehr, Zacharias Kohl, Beate Winner, Juergen Winkler
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Krach et al. dissect the molecular mechanism of the alternative splicing modulator Branaplam in Huntington’s disease. They show that the drug lowers mutant HTT protein levels and ameliorates alternative splicing pathology in an iPSC disease model.
Externí odkaz:
https://doaj.org/article/de498125578b4e53ac4080e1dc3242e6
Autor:
Sare Gökdere, Holm Schneider, Ute Hehr, Laure Willen, Pascal Schneider, Sigrun Maier-Wohlfart
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene EDA causes X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition characterized by abnormal development of ectodermal structures. XLHED is defined by the triad of
Externí odkaz:
https://doaj.org/article/da831d60ad3b442ba6a695b761a0b3b3
Autor:
Matthias Lubnow, Barbara Schmidt, Martin Fleck, Bernd Salzberger, Thomas Müller, Georg Peschel, Roland Schneckenpointner, Tobias Lange, Florian Hitzenbichler, Martin Kieninger, Dirk Lunz, Bernhard Graf, Christoph Brochhausen, Florian Weber, Florian Lüke, David Peterhoff, Philipp Schuster, Andreas Hiergeist, Robert Offner, Ute Hehr, Stefan Wallner, Frank Hanses, Stephan Schmid, Kilian Weigand, Florian Geismann, Hendrik Poeck, Tobias Pukrop, Matthias Evert, Andre Gessner, Ralph Burkhardt, Wolfgang Herr, Lars S. Maier, Daniel Heudobler
Publikováno v:
International Journal of Infectious Diseases, Vol 103, Iss , Pp 624-627 (2021)
A 21-year-old woman was hospitalized due to coronavirus disease 2019 (COVID-19)-associated respiratory and hepatic impairment concomitant with severe hemolytic anemia. Upon diagnosis of secondary hemophagocytic lymphohistiocytosis, immunosuppression
Externí odkaz:
https://doaj.org/article/1e6ad5d41aa74c868cb07ceeb8722c90
Autor:
Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a broad spectrum of
Externí odkaz:
https://doaj.org/article/5afe8591e55b4aadbf8bc23deba02c66
Autor:
Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-17 (2019)
Abstract Background The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounce
Externí odkaz:
https://doaj.org/article/6d36a41fe83e42eb90c37bc08b33293b
Autor:
Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de no
Externí odkaz:
https://doaj.org/article/e5929850d27f4ea7a01dbf423d0e5fd7
Autor:
Sebastian J Müller, Eya Khadhraoui, Ibrahim Allam, Loukas Argyriou, Ute Hehr, Jan Liman, Gerd Hasenfuß, Mathias Bähr, Christian H Riedel, Jan C Koch
Publikováno v:
Clinical and Translational Neuroscience, Vol 4 (2020)
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, Maeda syndrome) is an extremely rare autosomal-recessive genetic disorder with a serious arteriopathy causing subcortical infarcts and leukoencephal
Externí odkaz:
https://doaj.org/article/17bec10d1481483c80032acd55fb55a9