Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases
Curr Opin Cell Biol. 2023 Nov 3;85:102264. doi: 10.1016/j.ceb.2023.102264. Online ahead of print.ABSTRACTThe keratin cytoskeleton protects epithelia against mechanical, nonmechanical, and physical stresses, and participates in multiple signaling pathways that regulate cell integrity and resilience. Keratin gene mutations cause multiple rare monoallelic epithelial diseases termed keratinopathies, including the skin diseases Epidermolysis Bullosa Simplex (EBS) and Pachyonychia Congenita (PC), with limited available therapies. The disease-related keratin mutations trigger posttranslational modifications (PTMs) in keratins and...
Source: Current Opinion in Cell Biology - November 5, 2023 Category: Cytology Authors: Pei Li Katrin Rietscher Henriette Jopp Thomas M Magin M Bishr Omary Source Type: research
Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases
Curr Opin Cell Biol. 2023 Nov 3;85:102264. doi: 10.1016/j.ceb.2023.102264. Online ahead of print.ABSTRACTThe keratin cytoskeleton protects epithelia against mechanical, nonmechanical, and physical stresses, and participates in multiple signaling pathways that regulate cell integrity and resilience. Keratin gene mutations cause multiple rare monoallelic epithelial diseases termed keratinopathies, including the skin diseases Epidermolysis Bullosa Simplex (EBS) and Pachyonychia Congenita (PC), with limited available therapies. The disease-related keratin mutations trigger posttranslational modifications (PTMs) in keratins and...
Source: Current Opinion in Cell Biology - November 5, 2023 Category: Cytology Authors: Pei Li Katrin Rietscher Henriette Jopp Thomas M Magin M Bishr Omary Source Type: research
Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases
Curr Opin Cell Biol. 2023 Nov 3;85:102264. doi: 10.1016/j.ceb.2023.102264. Online ahead of print.ABSTRACTThe keratin cytoskeleton protects epithelia against mechanical, nonmechanical, and physical stresses, and participates in multiple signaling pathways that regulate cell integrity and resilience. Keratin gene mutations cause multiple rare monoallelic epithelial diseases termed keratinopathies, including the skin diseases Epidermolysis Bullosa Simplex (EBS) and Pachyonychia Congenita (PC), with limited available therapies. The disease-related keratin mutations trigger posttranslational modifications (PTMs) in keratins and...
Source: Current Opinion in Cell Biology - November 5, 2023 Category: Cytology Authors: Pei Li Katrin Rietscher Henriette Jopp Thomas M Magin M Bishr Omary Source Type: research
108 The role of Interleukin-1 driven inflammation in recessive dystrophic epidermolysis bullosa
In this study, we quantitated pro- and anti- inflammatory cytokines in the skin of RDEB mouse models and wild type (WT) littermate controls from birth to adulthood. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 1, 2023 Category: Dermatology Authors: R. Kann, M. Anderson-Crannage, A.M. Ascensi ón, O. Ibanez-Solé, H. Zhu, E. Schaefer, D. Ottomanelli, B. Hochberg, J. Pan, W. Luo, M. Tian, Y. Chu, M.S. Cairo, A. Izeta, Y. Liao Source Type: research
202 Increased circulating IL-17+ TRM are associated with Squamous Cell Carcinoma in Patients with Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a group of rare genetic skin disorders with mutations in genes responsible for mucocutaneous structural integrity. Even minor mechanical insults results in blistering of skin and mucous membranes. Patients with recessive EB (RDEB), a severe form of EB, often develop Squamous Cell Carcinomas (SCC), which are typically more aggressive compared to SCC in non-EB patients. SCC in EB patients typically arise in regions with inflamed chronical skin wounds. We thus hypothesize that cutaneous inflammation is promoting SCC tumors. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 1, 2023 Category: Dermatology Authors: A. Sharma, S. Zaafouri, S.R. Varkhande, M.M. Klicznik, G. Nasi, K. Umundum, M. Lew, A. Sophianidis, L.C. Sch öftner, A. Gerstenberger, E.M. Murauer, J.P. Hofbauer, C. Guttmann-Gruber, N. Fortelny, V. Wally, D.J. Campbell, I.K. Gratz Source Type: research
196 Squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa is associated with dysregulated T cell function
The skin of patients with Epidermolysis bullosa (EB) is highly fragile due to inherited mutations in genes that encode proteins with roles in keratinocyte integrity and cellular adhesion. Minimal trauma causes mucocutaneous blister formation in these patients. Skin wounds of EB patients are commonly infected by opportunistic pathogens and the most feared complication particularly in patients with recessive dystrophic EB (RDEB), is the formation of highly aggressive cutaneous squamous cell carcinoma (SCC) that typically arise in chronic wounds. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 1, 2023 Category: Dermatology Authors: A. Sharma, G. Nasi, S. Zaafouri, S.R. Varkhande, M.M. Klicznik, K. Umundum, M. Lew, A. Sophianidis, L.C. Sch öftner, A.C. Gerstenberger, J.P. Hofbauer, C. Guttmann-Gruber, N. Fortelny, V. Wally, D.J. Campbell, I.K. Gratz Source Type: research
181 Investigating the potential of repurposing diacerein for the treatment of cutaneous wounds in recessive dystrophic epidermolysis bullosa
Background/Aim: Mutations in COL7A1 affecting the expression or function of type-VII collagen lead to an impaired mechanical integrity of the skin - a hallmark of recessive dystrophic epidermolysis bullosa (RDEB). As a consequence patients suffer from severe blister formation and a high risk of erosions becoming chronic, non-healing wounds. In addition to ongoing efforts to address the genetic cause itself, we explored whether the anti-inflammatory drug diacerein could be amenable to a repurposing approach to improve wound healing. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 1, 2023 Category: Dermatology Authors: S. Dorfer, M. Ablinger, M. Wimmer, S. Ibrahimpasic, J. Illmer, J.W. Bauer, R. Zauner, V. Wally Source Type: research
238 Epidermolysis Bullosa Pruriginosa : A case with albopapuloid lesions and elevated serum IgE
We report a new case with albopapuloid lesions and elevated serum IgE. Case report: A 16 year-old boy, the product of non consanguinous marriage, was presented in our hospital with a history of blisters present since the neonatal period located mainly in the limbs. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - November 1, 2023 Category: Dermatology Authors: M. Ayad, S. Zobiri, L. Taibi, D. Bouharati, A. Ammar-Khodja Source Type: research
A pulmonary transition clinic: the first Italian experience from Sacco University Hospital
Conclusions: Our data showed the feasibility and effectiveness of a PTC. The access to health care transition should be provided to all young adults suffering from chronic respiratory diseases. (Source: European Respiratory Journal)
Source: European Respiratory Journal - October 27, 2023 Category: Respiratory Medicine Authors: Mandurino Mirizzi, F., Milani, L., Saad, M., Fuccia, G., Perotto, L., Danzo, F., Farolfi, A., Zuccotti, G. V., Santus, P., Radovanovic, D. Tags: General practice and primary care Source Type: research
Refractory Epidermolysis Bullosa Acquisita with Chronic Graft-versus-Host Disease Successfully Treated with Rituximab
Ann Dermatol. 2023 May;35(Suppl 1):S129-S131. doi: 10.5021/ad.20.332.NO ABSTRACTPMID:37853885 | DOI:10.5021/ad.20.332 (Source: Annals of Dermatology)
Source: Annals of Dermatology - October 19, 2023 Category: Dermatology Authors: Ju Hee Han Hwa Jung Yook Chul Hwan Bang Ji Hyun Lee Young Min Park Jun Young Lee Source Type: research
