Inherited Dystrophic Epidermolysis Bullosa in Inbred Dogs: A Spontaneous Animal Model for Somatic Gene Therapy

Palazzi, Xavier; Marchal, Thierry; Chabanne, Luc; Spadafora, Anne; Meneguzzi, Guerríno; Magnol, J. P.

doi:10.1046/j.1523-1747.2000.00031-5.x

Cited by 48 publications

(29 citation statements)

References 12 publications

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“…Similar to human patients, these dogs synthesize an abnormal collagen type VII and suffer from generalized tendency of the skin to blister. 16 Using this animal model, it was demonstrated, in vitro, that conventional retroviral vectors efficiently transduce the dog collagen VII cDNA into the dystrophic EB keratinocytes and achieve permanent expression of the transgene with correction of the defects caused by recessive dystrophic EB. 17 Although a safety preassessment of a human transgenic skin may be feasible in the future (see below), a preclinical gene therapy study in large immunocompetent animals remains critical to define the precise specifications for future clinical trials.…”

Section: Candidate Diseases For Permanent Keratinocyte Gene Transfermentioning

confidence: 99%

Current approaches and perspectives in human keratinocyte-based gene therapies

et al. 2004

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Inherited and acquired disorders are liable to treatment with somatic gene therapy. The skin, and in particular epidermal cells, are particularly suited to genetic manipulation and follow-up of therapeutic effects. Cutaneous gene therapy may be effective for skin defects and systemic abnormalities.The robust basic and preclinical data available today would support the application of keratinocyte-based gene therapy to patients.

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Section: Candidate Diseases For Permanent Keratinocyte Gene Transfermentioning

confidence: 99%

Current approaches and perspectives in human keratinocyte-based gene therapies

et al. 2004

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“…In the severe Herlitz variant, H-JEB, tissue cleavage results from the mutations in one of the three genes (LAMA3, LAMB3 or LAMC2) [1,15,20] encoding the three subunits (α3, β3 and γ2) of the extracellular adhesion ligand laminin 5 associated with the hemidesmosome-anchoring filament complexes. Likewise, cases of EB have been described in different species, such as sheep [4], dogs [19], cats [18], mice [5], and rats [2].…”

Section: Introductionmentioning

confidence: 99%

A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds

et al. 2003

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-Epidermolysis bullosa (EB) is a heterogeneous group of inherited diseases characterised by skin blistering and fragility. In humans, one of the most severe forms of EB known as Herlitz-junctional EB (H-JEB), is caused by mutations in the laminin 5 genes. EB has been described in several species, like cattle, sheep, dogs, cats and horses where the mutation, a cytosine insertion in exon 10 of the LAMC2 gene, was very recently identified in Belgian horses as the mutation responsible for JEB. In this study, the same mutation was found to be totally associated with the JEB phenotype in two French draft horse breeds, Trait Breton and Trait Comtois. This result provides breeders a molecular test to better manage their breeding strategies by genetic counselling.horse / LAMC2 / epidermolysis bullosa / laminin 5

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“…72,74 Further animal studies in inbred golden retriever dogs with mild RDEB revealed that intravenous administration of rC7 results in reduced wound erythema and blistering. 75 Mechanistic data are still lacking and there is potential to develop clinically relevant antibodies to C7. 76,77 This therapy has not yet been translated into a model suitable for clinical application, but remains a hopeful approach for future therapeutic development.…”

Section: Protein Therapymentioning

confidence: 99%

Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions

Rashidghamat¹,

Mellerio²

2017

CWCMR

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Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of severe inherited blistering diseases that affects 500,000 individuals worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma and show involvement of mucus membrane and other organs in some subtypes. Dystrophic EB (DEB) is divided into 2 major types depending on the inheritance pattern: recessive DEB (RDEB) and dominant DEB (DDEB). RDEB tends to be at the more severe end of the clinical spectrum and has a prevalence of 8 per 1 million of the population, accounting for approximately 5% of all cases of EB. RDEB is caused by loss-of-function mutations in the type VII collagen gene, COL7A1, which leads to reduced or absent type VII collagen (C7) and structurally defective anchoring fibrils at the dermal-epidermal junction. In this review, we will discuss the management of chronic wounds in individuals with DEB, highlighting the changes to practice and the novel therapies that may offer a solution to this debilitating and complex problem which is one of the greatest sources of morbidity in this disease.

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Inherited Dystrophic Epidermolysis Bullosa in Inbred Dogs: A Spontaneous Animal Model for Somatic Gene Therapy

Cited by 48 publications

References 12 publications

Current approaches and perspectives in human keratinocyte-based gene therapies

Current approaches and perspectives in human keratinocyte-based gene therapies

A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds

Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions

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