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Akademický článek

Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D

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

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Akademický článek

Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease

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

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Akademický článek

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

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Akademický článek

An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

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

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Akademický článek

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

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

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Akademický článek

Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression

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

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Akademický článek

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

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

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Akademický článek

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

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

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Akademický článek

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

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

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