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Literature summary for 2.7.7.B22 extracted from

  • Escobar, H.; Schoewel, V.; Spuler, S.; Marg, A.; Izsvak, Z.
    Full-length dysferlin transfer by the hyperactive sleeping beauty transposase restores dysferlin-deficient muscle (2016), Mol. Ther. Nucleic Acids, 5, e277.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine Sleeping Beauty (SB) transposon is a nonviral gene transfer vector, already used in clinical trials. Full-length dysferlin transfer by the hyperactive sleeping beauty transposase restores dysferlin-deficient muscle, which can be used for nonviral gene delivery of full-length human dysferlin into muscle cells, along with a successful and efficient transplantation into skeletal muscle, important advances towards successful gene therapy of dysferlin-deficient muscular dystrophy Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens H2K A/J muscle cells properly express full-length human DYSF following SB-mediated gene transfer. A duplicate of Spc5-12 (2xSpc5-12) regulatory sequence proves to be the most efficient in driving transgene expression in H2K A/J myoblasts. Corrected H2K A/J myoblasts can efficiently be transplanted into Scid/BLA/J mouse muscle ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information H2K A/J muscle cells properly express full-length human DYSF following SB-mediated gene transfer. A duplicate of Spc5-12 (2xSpc5-12) regulatory sequence proves to be the most efficient in driving transgene expression in H2K A/J myoblasts. Corrected H2K A/J myoblasts can efficiently be transplanted into Scid/BLA/J mouse muscle Homo sapiens ?
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Synonyms

Synonyms Comment Organism
sleeping beauty transposase
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 Homo sapiens

General Information

General Information Comment Organism
physiological function Sleeping Beauty (SB) transposon is a nonviral gene transfer vector, already used in clinical trials. Full-length dysferlin transfer by the hyperactive sleeping beauty transposase restores dysferlin-deficient muscle, which can be used for nonviral gene delivery of full-length human dysferlin into muscle cells, along with a successful and efficient transplantation into into skeletal muscle to cure dysferlin-deficient muscular dystrophy by gene therapy. Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb. The hyperactive SB system consists of a transposon DNA sequence and a transposase protein, SB100X, that can integrate DNA over 10 kb into the target genome Homo sapiens