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Hereditary bullous diseases: current and innovative models to study the skin blistering disease epidermolysis bullosa

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Drug Discovery Today: Disease Models 2020年第PartB期32卷 17-25页

作者： Guttmann-Gruber, Christina Bauer, Johann W. Piñón Hofbauer, Josefina EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg 5020 Austria

As the largest organ of the human body, our skin serves as an interface to the environment, as well as a defensive barrier against dangers therein. Its integrity is facilitated by a complex suprastructural network of proteins that tether the epidermis to the underlying dermis. Mutations in single genes that disrupt the function of these proteins lead to severe bullous disorders such as epidermolysis bullosa (EB). This short review focuses on progress in the establishment of different model systems that recapitulate multiple aspects of the pathological phenotype of EB. These models have been used to decipher disease modifying mechanisms and evaluate therapeutic possibilities aimed at reverting the genetic defect or ameliorating disease-associated complications. © 2020 The Authors

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382 Selumetinib, identified by transcriptome-guided drug repurposing, targets highly aggressive RDEB-SCCs

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Journal of Investigative Dermatology 2024年第12期144卷 S294-S294页

作者： S. Dorfer R. Zauner C. Guttmann-Gruber V. Reichl M. Ablinger S. Gruner J. Illmer J. Bauer V. Wally EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Austria Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Austria

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181 Investigating the potential of repurposing diacerein for the treatment of cutaneous wounds in recessive dystrophic epidermolysis bullosa

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Journal of Investigative Dermatology 2023年第11期143卷 S363-S363页

作者： S. Dorfer M. Ablinger M. Wimmer S. Ibrahimpasic J. Illmer J.W. Bauer R. Zauner V. Wally EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Austria Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Austria

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Implications of Self-Assembled Extracellular Matrix for Dermal-Epidermal Interactions in Health And Disease

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SSRN 2024年

作者： Malta, Mariana D. Fernandes, Maria G. Martins, Luís Andre, António Martins, Pedro Pires, Ricardo Alexandre Novoa-Carballal, R. Osório, Hugo Guttmann-Gruber, Christin Kocher, Thomas Cerqueira, Mariana T. Marques, Alexandra P. 3B’s Research Group I3Bs-Research Institute on Biomaterials Biodegradables and Biomimetics University of Minho Headquarters of the European Institute of Excellence on Tissue Engineering and Regenerative Medicine Guimarães4805-017 Portugal ICVS/3B’s–PT Government Associate Laboratory Guimarães4805-017 Portugal INEGI Porto Portugal ARAID i3A Universidad de Zaragoza Spain i3S - Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto4200-135 Portugal Ipatimup - Instituto de Patologia e Imunologia Molecular da Universidade do Porto Porto4200-135 Portugal FMUP Faculdade de Medicina Universidade do Porto Porto4200-319 Portugal EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Austria

The dermal extracellular matrix (ECM) is the principal regulator of skin homeostasis, being also recognized as a key factor in driving a range of skin diseases. Despite some advances, understanding related biological signaling has been hindered by the lack of in vitro platforms capable of replicating the nuanced complexity of the dermal ECM. Here, we demonstrate that an advanced dermal equivalent can be used to study dermal-epidermal junction (DEJ) underlying mechanisms more accurately than standard collagen-based models, owing to its higher ECM compositional complexity and native-like biomechanical milieu. By leveraging our system to study the prototype of skin fragility diseases, dystrophic epidermolysis bullosa (DEB), characterized by weakened DEJ, we gained insights into the correlation of dermal ECM organization with different disease variants exhibiting distinct clinical manifestations. Additionally, we identified a potential therapeutic target, fibulin-5, which effectively restored dermal ECM elastic behavior, ultimately strengthening DEJ. Overall, we underscore the potential of our complex dermal equivalent in preclinical therapy testing, thereby advancing understanding and therapeutic strategies for ECM-related disorders. © 2024, The Authors. All rights reserved.

关键词： 3D modeling

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883 Non-viral COL7A1 editing as therapy approach for dystrophic epidermolysis bullosa

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Journal of Investigative Dermatology 2023年第5期143卷 S151-S151页

作者： B. Liemberger J. Bischof T. Kocher M. Ablinger E.M. Murauer A. Nyström V. Wally E. Mayr U. Koller J. Bauer EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg Austria Department of Dermatology Medical Faculty Medical Center - University of Freiburg Freiburg Germany Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg Austria

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287 Development of a non-invasive, non-viral RNA therapy approach for dystrophic epidermolysis bullosa

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Journal of Investigative Dermatology 2022年第12期142卷 S229-S229页

作者： B. Liemberger J. Bischof T. Kocher M. Ablinger E. Murauer A. Nyström V. Wally E. Mayr J. Bauer U. Koller EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg Austria Department of Dermatology Medical Center - University of Freiburg Freiburg Germany Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg Austria

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Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update

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Orphanet journal of rare diseases 2025年第1期20卷 313页

作者： Verena Wally Tobias Welponer Hans-Peter Wiesinger Anja Diem Konstantin Thiel Martin Geroldinger Georg Zimmermann Julia I Hummel Sonja Dorfer Josefina Piñón Hofbauer Johann W Bauer Martin Laimer Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology EB House Austria University Hospital of the Paracelsus Medical University Salzburg 5020 Austria. v.wally@salk.at. Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg 5020 Austria. v.wally@salk.at. Master Programme Public Health Center for Public Health and Healthcare Research Paracelsus Medical University Salzburg 5020 Austria. v.wally@salk.at. Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg 5020 Austria. Institute of Nursing Science and Practice Center for Public Health and Healthcare Research Paracelsus Medical University Salzburg Austria. Institute of General Practice Family Medicine and Preventive Medicine Paracelsus Medical University Salzburg Austria. Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology EB House Austria University Hospital of the Paracelsus Medical University Salzburg 5020 Austria. Research Programme Biomedical Data Science Paracelsus Medical University Salzburg Austria. IDA Lab Salzburg Team Biostatistics and Big Medical Data Paracelsus Medical University Salzburg Austria. Department of Artificial Intelligence and Human Interfaces Faculty of Digital and Analytical Sciences Paris Lodron University Salzburg Austria. Department of Biosciences and Medical Biology University of Salzburg Salzburg 5020 Austria.

INTRODUCTION:Clinical research on innovative therapies for the rare genodermatosis epidermolysis bullosa (EB) faces significant challenges, including small sample sizes, disease heterogeneity with intra- and inter-individual variability, limited understanding of pathogenic mechanisms and natural disease course, as well as the lack of patient-centred core outcomes. Moreover, existing tools and techniques to assess disease activity and dynamics are heterogeneous, inconsistent, and may fail to consider or inaccurately emphasize particularities of individual patients and distinct EB subtypes. METHODS:In order to exemplify the differences between keratin-associated subtypes of EB simplex (k-EBS), we summarized respective clinical characteristics in a narrative way. In addition, we performed a systematic review of the literature published over the last 5 years, with the aim to give an overview on outcomes and their assessments used in these patient populations. RESULTS:This review summarises the methodological scope, strengths and limitations of outcome assessments in clinical trials for the k-EBS, a group of inherited skin fragility diseases characterised by their distinct phenotype of epidermal blistering. CONCLUSIONS:By presenting an overview of the clinical spectrum of k-EBS, we identified key gaps in current assessment methodologies and propose alternative approaches to optimise the evaluation of skin blistering, with the aim of enhancing the accuracy, reliability, and patient-relevance of clinical outcomes.

关键词： Blisters Case reports Clinical trials Epidermolysis bullosa simplex

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Generation of rabbit polyclonal human and murine collagen VII monospecific antibodies: A useful tool for dystrophic epidermolysis bullosa therapy studies

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Matrix Biology Plus 2019年 4卷 100017页

作者： Bornert, Olivier Kocher, Thomas Gretzmeier, Christine Liemberger, Bernadette Hainzl, Stefan Koller, Ulrich Nyström, Alexander Department of Dermatology Medical Faculty Medical Center – University of Freiburg Freiburg Germany EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Salzburg 5020 Austria

High conservation of extracellular matrix proteins often makes the generation of potent species-specific antibodies challenging. For collagen VII there is a particular preclinical interest in the ability to discriminate between human and murine collagen VII. Deficiency of collagen VII causes dystrophic epidermolysis bullosa (DEB) – a genetic skin blistering disease, which in its most severe forms is highly debilitating. Advances in gene and cell therapy approaches have made curative therapies for genetic diseases a realistic possibility. DEB is one disorder for which substantial progress has been made toward curative therapies and improved management of the disease. However, to increase their efficacy further preclinical studies are needed. The early neonatal lethality of complete collagen VII deficient mice, have led researches to resort to using models maintaining residual collagen VII expression or grafting of DEB model skin on wild-type mice for preclinical therapy studies. These approaches are challenged by collagen VII expression by the murine host. Thus, the ability to selectively visualize human and murine collagen VII would be a substantial advantage. Here, we describe a novel resource toward this end. By immunization with homologous peptides we generated rabbit polyclonal antibodies that recognize either human or murine collagen VII. Testing on additional species, including rat, sheep, dog, and pig, combined sequence alignment and peptide competition binding assays enabled identification of the major antisera recognizing epitopes. The species-specificity was maintained after denaturation and the antibodies allowed us to simultaneously, specifically visualize human and murine collagen VII in situ. © 2019 The Authors

关键词： DAPI 4′,6-diamidino-2-phenylindole EB epidermolysis bullosa DEB dystrophic epidermolysis bullosa JEB junctional epidermolysis bullosa NC non-collagenous domain pAb polyclonal antibody RDEB recessive dystrophic epidermolysis bullosa

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599 Deregulation of miR-10b affects HOXD10 expression in squamous cell carcinoma from epidermolysis bullosa patients

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Journal of Investigative Dermatology 2017年第10期137卷 S294-S294页

作者： M. Wimmer R. Zauner T. Lettner N. Niklas S. Atzmüller J. Reichelt J.W. Bauer V. Wally EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology University Hospital of the Paracelsus Medical University Salzburg Austria Red Cross Transfusion Service for Upper Austria Linz Austria

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212 Antisense RNA-mediated improvement of SMaRT therapy for KRT14 correction

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Journal of Investigative Dermatology 2017年第10期137卷 S229-S229页

作者： B. Liemberger C. Arzt S. Hainzl T. Kocher J Piñón Hofbauer E.M. Murauer J.W. Bauer J. Reichelt U. Koller EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology University Hospital of the Paracelsus Medical University Salzburg Salzburg Austria University Hospital of Dermatology Paracelsus Medical University Salzburg Salzburg Austria

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