185 CRISPR/Cas9 mediated gene correction of COL7A1
نویسندگان
چکیده
منابع مشابه
Gene Therapy for the COL7A1 Gene
Epidermolysis bullosa (EB) is a genetically and clinically variable disease characterized by blis‐ ter formation and erosions of the skin and mucous membranes after minor trauma [1]. The in‐ heritance of the affected genes can occur in a dominant or recessive way depending on the subform of the disease. In general, epidermolysis bullosa is caused by mutations in genes en‐ coding structural prot...
متن کاملDeletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells
1Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain; 2Department of Biomedical Engineering, Carlos III University (UC3M), Madrid, Spain; 3Institute of Pathology, Universitätsklinikum Heidelberg, Heidelberg, Germany; 4Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, Madrid, Spain; 5Centro de Investigaci...
متن کاملGene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes
Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV)-mediated delivery of donor template DNA with transcription activator-like nucleases (TALE) expressed by adenoviral vectors to address the correction of the c.6527insC mutation in the COL7A1 gene, causing rece...
متن کاملLentiviral-mediated gene correction of mucopolysaccharidosis type IIIA
BACKGROUND Mucopolysaccharidosis type IIIA (MPS IIIA) is the most common of the mucopolysaccharidoses. The disease is caused by a deficiency of the lysosomal enzyme sulphamidase and results in the storage of the glycosaminoglycan (GAG), heparan sulphate. MPS IIIA is characterised by widespread storage and urinary excretion of heparan sulphate, and a progressive and eventually profound neurologi...
متن کاملRetroviral-mediated gene correction for X-linked severe combined immunodeficiency.
X-linked severe combined immunodeficiency (XSCID) is a lethal disease caused by a defect in the gene encoding the common gamma chain (gamma-c) of the receptor for interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. Allogeneic bone marrow transplantation, the current therapy of choice for this defect, is often complicated by graft-versus-host disease and/or incomplete reconstitution of B-lymphocy...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.07.182