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 …

Autologous limbal stem cell transplantation: a systematic review of clinical outcomes with different surgical techniques

SS Shanbhag, N Nikpoor, PR Donthineni… - British Journal of …, 2020 - bjo.bmj.com
Purpose To conduct a systematic review on outcomes of three different techniques of
autologous limbal stem cell transplantation (LSCT): conjunctival-limbal autografting (CLAu) …

Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa

V Lincoln, J Cogan, Y Hou, M Hirsch… - Proceedings of the …, 2018 - National Acad Sciences
Herlitz junctional epidermolysis bullosa (H-JEB) is an incurable, devastating, and mostly
fatal inherited skin disease for which there is only supportive care. H-JEB is caused by loss …

Limbal epithelial and mesenchymal stem cell therapy for corneal regeneration

S Shukla, SS Shanbhag, F Tavakkoli, S Varma… - Current eye …, 2020 - Taylor & Francis
Corneal pathologies are a major cause of blindness and visual impairment, especially in the
developing world. However, not only is there a global shortage of donor corneal tissue, but a …

[HTML][HTML] Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa

B Levian, Y Hou, X Tang, L Bainvoll, K Zheng… - … Therapy Nucleic Acids, 2024 - cell.com
Recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa
(JEB) are lethal blistering skin disorders resulting from mutations in genes coding for type VII …

Construction and validation of an RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations

B Tockner, T Kocher, S Hainzl, J Reichelt, JW Bauer… - Gene Therapy, 2016 - nature.com
RNA trans-splicing has become a versatile tool in the gene therapy of monogenetic
diseases. This technique is especially valuable for the correction of mutations in large genes …

Cell therapy for basement membrane-linked diseases

A Nyström, O Bornert, T Kühl - Matrix Biology, 2017 - Elsevier
For most disorders caused by mutations in genes encoding basement membrane (BM)
proteins, there are at present only limited treatment options available. Genetic BM-linked …

Attenuation of severe generalized junctional epidermolysis bullosa by systemic treatment with gentamicin

J Hammersen, A Neuner, F Wild, H Schneider - Dermatology, 2019 - karger.com
Severe generalized junctional epidermolysis bullosa (JEB), a lethal genodermatosis, is
mainly caused by premature termination codons (PTCs) in one of the three genes encoding …

Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice

TJ Sproule, VM Philip, NA Chaudhry, DC Roopenian… - PloS one, 2023 - journals.plos.org
Epidermolysis Bullosa (EB) is a group of rare genetic disorders that compromise the
structural integrity of the skin such that blisters and subsequent erosions occur after minor …

[HTML][HTML] Correction of Recessive DystrophicáEpidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary …

MC Latella, F Cocchiarella, L De Rosa… - Journal of Investigative …, 2017 - Elsevier
Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects in type-VII
collagen (C7), a protein encoded by the COL7A1 gene and essential for anchoring fibril …