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US 11,040,114 B2Granted
Human alpha-N-acetylgalactosaminidase polypeptide
AssigneeOxyrane UK Limited
InventorsWouter Vervecken, Steven Geysens
Life of this patent
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Abstract
The present invention provides new forms of human α-N-acetylgalactosaminidase (NAGAL) polypeptide or a functionally active variant or fragment thereof, nucleic acids encoding the same, and related products and uses, including use in methods of treating Fabry disease, Schindler disease or Kanzaki disease.
Claims37
A human α-N-acetylgalactosaminidase (NAGAL) polypeptide comprising the amino acid sequence as set forth in SEQ ID NO:
- 1 or having at least 95% sequence identity to SEQ ID NO:
- 1,
- and further comprising S to E substitution at an amino acid position corresponding to the position of amino acid 171 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, and A to L substitution at an amino acid position corresponding to the position of amino acid 174 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, whereby the human NAGAL polypeptide exhibits α-galactosidase activity,
- wherein the human NAGAL polypeptide is modified such that:
- a first amino acid, corresponding to asparagine 213 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids;
- or
- a second amino acid, corresponding to cysteine 326 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids;
- or
- a first amino acid, corresponding to asparagine 213 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids, and a second amino acid, corresponding to cysteine 326 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids.
12 more elements
A human NAGAL polypeptide comprising the amino acid sequence as set forth in SEQ ID NO:
- 1 or having at least 95% sequence identity to SEQ ID NO:
- 1,
- and further comprising S to E substitution at an amino acid position corresponding to the position of amino acid 171 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, and A to L substitution at an amino acid position corresponding to the position of amino acid 174 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, whereby the human NAGAL polypeptide exhibits α-galactosidase activity,
- wherein the human NAGAL polypeptide exhibiting α-galactosidase activity, is modified such that:
- a first amino acid, corresponding to asparagine 213 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids, such that at least one of said one or more amino acids is capable of directly or indirectly interacting with a second amino acid corresponding to cysteine 326 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1;
- or
- a second amino acid, corresponding to cysteine 326 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids, such that at least one of said one or more amino acids is capable of directly or indirectly interacting with a first amino acid corresponding to asparagine 213 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1;
- or
- a first amino acid, corresponding to asparagine 213 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids, and a second amino acid, corresponding to cysteine 326 of human NAGAL polypeptide as set forth in SEQ ID NO:
- 1, is substituted with one or more amino acids, such that at least one of said one or more amino acids substituting the first amino acid is capable of directly or indirectly interacting with at least one of said one or more amino acids substituting the second amino acid.
14 more elements
Dependencies are inferred from the claim text.