Gene therapy and gene correction: targets, progress, and challenges for treating human diseases

MR Cring, VC Sheffield - Gene therapy, 2022 - nature.com
The field of gene therapy has made significant strides over the last several decades toward
the treatment of previously untreatable genetic disease. Gene therapy techniques have …

Basement membrane collagens and disease mechanisms

A Gatseva, YY Sin, G Brezzo… - Essays in …, 2019 - portlandpress.com
Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and
collagens are a key component required for BM function. While collagen IV is the major BM …

Innovations in the treatment of dystrophic epidermolysis bullosa (DEB): current landscape and prospects

PC Hou, N Del Agua, SM Lwin, CK Hsu… - … and Clinical Risk …, 2023 - Taylor & Francis
Dystrophic epidermolysis bullosa (DEB) is one of the major types of EB, a rare hereditary
group of trauma-induced blistering skin disorders. DEB is caused by inherited pathogenic …

Investigational treatments for epidermolysis bullosa

PC Hou, HT Wang, S Abhee, WT Tu… - American Journal of …, 2021 - Springer
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin
disorders characterized by skin fragility following minor trauma, usually present since birth …

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

E Rashidghamat, JA McGrath - Intractable & Rare Diseases …, 2017 - jstage.jst.go.jp
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of inherited
blistering diseases that affects~ 500,000 people worldwide. Clinically, individuals with EB …

Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa

S Shinkuma, Z Guo… - Proceedings of the …, 2016 - National Acad Sciences
Genome editing with engineered site-specific endonucleases involves nonhomologous end-
joining, leading to reading frame disruption. The approach is applicable to dominant …

Epidermolysis bullosa: Advances in research and treatment

C Prodinger, J Reichelt, JW Bauer… - Experimental …, 2019 - Wiley Online Library
Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility
disorders caused by mutations in at least 20 different genes. There is no cure for any of the …

Challenges in treating genodermatoses: new therapies at the horizon

MA Morren, E Legius, F Giuliano… - Frontiers in …, 2022 - frontiersin.org
Genodermatoses are rare inherited skin diseases that frequently affect other organs. They
often have marked effects on wellbeing and may cause early death. Progress in molecular …

Stairways to advanced therapies for epidermolysis bullosa

L De Rosa, E Enzo, M Palamenghi… - Cold Spring …, 2023 - cshperspectives.cshlp.org
Epidermolysis bullosa (EB) is a devastating genetic skin disease typified by a plethora of
different phenotypes and ranking from severe, early lethal, to mild localized forms. Although …

Beyond the surface: a narrative review examining the systemic impacts of recessive dystrophic epidermolysis bullosa

C Popp, W Miller, C Eide, J Tolar, JA McGrath… - Journal of Investigative …, 2024 - Elsevier
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease resulting from
inadequate type VII collagen (C7). Although recurrent skin blisters and wounds are the most …