Polynucleotides encoding a human FKRP protein
AssigneesGenethon, Universite D'Evry Val D'Essonne, Inserm (Institut National De La Sante Et De La Recherche Medicale)
InventorsIsabelle Richard, Evelyne Gicquel-Zouida, William Lostal
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Abstract
The present invention concerns synthetic polynucleotides encoding a human fukutin-related protein (FKRP) wherein the synthetic polynucleotides contain at least a mutation avoiding supplementary transcript(s) generated from frameshift start codon(s). The synthetic polynucleotides are useful, especially for treating a pathology linked to a FKRP deficiency or induced by a defect in α-dystroglycan (α-DG) glycosylation, such as LGMD2I.
Claims9
A synthetic polynucleotide encoding a human fukutin-related protein (FKRP) comprising an amino acid sequence as set forth in SEQ ID NO:
- 1, wherein:
- the polynucleotide has at least three antisense start codons mutated, said antisense start codons being located at position 429, 819, and 1431 of sequence SEQ ID NO:
- 2;
- and
- the polynucleotide comprises a nucleic acid sequence as set forth in SEQ ID NO:
- 6.
Dependencies are inferred from the claim text.