JPWO2022023761A5 - - Google Patents
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- Publication number
- JPWO2022023761A5 JPWO2022023761A5 JP2023506111A JP2023506111A JPWO2022023761A5 JP WO2022023761 A5 JPWO2022023761 A5 JP WO2022023761A5 JP 2023506111 A JP2023506111 A JP 2023506111A JP 2023506111 A JP2023506111 A JP 2023506111A JP WO2022023761 A5 JPWO2022023761 A5 JP WO2022023761A5
- Authority
- JP
- Japan
- Prior art keywords
- polypeptide
- gcase
- seq
- mutation
- modified
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Pending
Links
- 102000004547 Glucosylceramidase Human genes 0.000 claims 140
- 108010017544 Glucosylceramidase Proteins 0.000 claims 140
- 108090000765 processed proteins & peptides Proteins 0.000 claims 123
- 229920001184 polypeptide Polymers 0.000 claims 122
- 102000004196 processed proteins & peptides Human genes 0.000 claims 122
- 230000035772 mutation Effects 0.000 claims 68
- 230000000694 effects Effects 0.000 claims 42
- 239000002773 nucleotide Substances 0.000 claims 34
- 125000003729 nucleotide group Chemical group 0.000 claims 34
- 239000002245 particle Substances 0.000 claims 33
- 230000003612 virological effect Effects 0.000 claims 32
- 150000001413 amino acids Chemical group 0.000 claims 26
- 235000018417 cysteine Nutrition 0.000 claims 24
- XUJNEKJLAYXESH-UHFFFAOYSA-N cysteine Natural products SCC(N)C(O)=O XUJNEKJLAYXESH-UHFFFAOYSA-N 0.000 claims 24
- 239000002157 polynucleotide Substances 0.000 claims 16
- 102000040430 polynucleotide Human genes 0.000 claims 16
- 108091033319 polynucleotide Proteins 0.000 claims 16
- 208000015872 Gaucher disease Diseases 0.000 claims 15
- 235000001014 amino acid Nutrition 0.000 claims 15
- 229940024606 amino acid Drugs 0.000 claims 15
- 238000011534 incubation Methods 0.000 claims 15
- 238000006467 substitution reaction Methods 0.000 claims 13
- 125000000151 cysteine group Chemical group N[C@@H](CS)C(=O)* 0.000 claims 12
- 239000000203 mixture Substances 0.000 claims 11
- 238000000034 method Methods 0.000 claims 10
- 201000010099 disease Diseases 0.000 claims 7
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims 7
- 239000012634 fragment Substances 0.000 claims 7
- 210000002381 plasma Anatomy 0.000 claims 6
- 230000022532 regulation of transcription, DNA-dependent Effects 0.000 claims 6
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 claims 5
- 239000003623 enhancer Substances 0.000 claims 5
- 210000004185 liver Anatomy 0.000 claims 5
- 210000004072 lung Anatomy 0.000 claims 5
- 210000002540 macrophage Anatomy 0.000 claims 5
- 210000000352 storage cell Anatomy 0.000 claims 5
- 210000001519 tissue Anatomy 0.000 claims 5
- DCXYFEDJOCDNAF-UHFFFAOYSA-N Asparagine Natural products OC(=O)C(N)CC(N)=O DCXYFEDJOCDNAF-UHFFFAOYSA-N 0.000 claims 4
- 208000020916 Gaucher disease type II Diseases 0.000 claims 4
- QNAYBMKLOCPYGJ-REOHCLBHSA-N L-alanine Chemical compound C[C@H](N)C(O)=O QNAYBMKLOCPYGJ-REOHCLBHSA-N 0.000 claims 4
- QIVBCDIJIAJPQS-VIFPVBQESA-N L-tryptophane Chemical compound C1=CC=C2C(C[C@H](N)C(O)=O)=CNC2=C1 QIVBCDIJIAJPQS-VIFPVBQESA-N 0.000 claims 4
- QIVBCDIJIAJPQS-UHFFFAOYSA-N Tryptophan Natural products C1=CC=C2C(CC(N)C(O)=O)=CNC2=C1 QIVBCDIJIAJPQS-UHFFFAOYSA-N 0.000 claims 4
- 235000004279 alanine Nutrition 0.000 claims 4
- 235000009582 asparagine Nutrition 0.000 claims 4
- 229960001230 asparagine Drugs 0.000 claims 4
- 210000001185 bone marrow Anatomy 0.000 claims 4
- 210000004027 cell Anatomy 0.000 claims 4
- 230000007812 deficiency Effects 0.000 claims 4
- 238000002641 enzyme replacement therapy Methods 0.000 claims 4
- ZDXPYRJPNDTMRX-UHFFFAOYSA-N glutamine Natural products OC(=O)C(N)CCC(N)=O ZDXPYRJPNDTMRX-UHFFFAOYSA-N 0.000 claims 4
- 125000000404 glutamine group Chemical group N[C@@H](CCC(N)=O)C(=O)* 0.000 claims 4
- 210000000056 organ Anatomy 0.000 claims 4
- 210000000952 spleen Anatomy 0.000 claims 4
- 230000026683 transduction Effects 0.000 claims 4
- 238000010361 transduction Methods 0.000 claims 4
- DCXYFEDJOCDNAF-REOHCLBHSA-N L-asparagine Chemical compound OC(=O)[C@@H](N)CC(N)=O DCXYFEDJOCDNAF-REOHCLBHSA-N 0.000 claims 3
- 210000000265 leukocyte Anatomy 0.000 claims 3
- 210000002966 serum Anatomy 0.000 claims 3
- 241000702421 Dependoparvovirus Species 0.000 claims 2
- 208000028735 Gaucher disease type III Diseases 0.000 claims 2
- CKLJMWTZIZZHCS-REOHCLBHSA-N L-aspartic acid Chemical compound OC(=O)[C@@H](N)CC(O)=O CKLJMWTZIZZHCS-REOHCLBHSA-N 0.000 claims 2
- KDXKERNSBIXSRK-UHFFFAOYSA-N Lysine Natural products NCCCCC(N)C(O)=O KDXKERNSBIXSRK-UHFFFAOYSA-N 0.000 claims 2
- 239000004472 Lysine Substances 0.000 claims 2
- MTCFGRXMJLQNBG-UHFFFAOYSA-N Serine Natural products OCC(N)C(O)=O MTCFGRXMJLQNBG-UHFFFAOYSA-N 0.000 claims 2
- 235000003704 aspartic acid Nutrition 0.000 claims 2
- 238000003556 assay Methods 0.000 claims 2
- OQFSQFPPLPISGP-UHFFFAOYSA-N beta-carboxyaspartic acid Natural products OC(=O)C(N)C(C(O)=O)C(O)=O OQFSQFPPLPISGP-UHFFFAOYSA-N 0.000 claims 2
- 210000000234 capsid Anatomy 0.000 claims 2
- 125000003588 lysine group Chemical group [H]N([H])C([H])([H])C([H])([H])C([H])([H])C([H])([H])C([H])(N([H])[H])C(*)=O 0.000 claims 2
- 230000006641 stabilisation Effects 0.000 claims 2
- 238000011105 stabilization Methods 0.000 claims 2
- 241000702423 Adeno-associated virus - 2 Species 0.000 claims 1
- 239000004475 Arginine Substances 0.000 claims 1
- 206010012438 Dermatitis atopic Diseases 0.000 claims 1
- AGPKZVBTJJNPAG-WHFBIAKZSA-N L-isoleucine Chemical compound CC[C@H](C)[C@H](N)C(O)=O AGPKZVBTJJNPAG-WHFBIAKZSA-N 0.000 claims 1
- OUYCCCASQSFEME-QMMMGPOBSA-N L-tyrosine Chemical compound OC(=O)[C@@H](N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-QMMMGPOBSA-N 0.000 claims 1
- 241000713666 Lentivirus Species 0.000 claims 1
- 208000018737 Parkinson disease Diseases 0.000 claims 1
- 241000700605 Viruses Species 0.000 claims 1
- ODKSFYDXXFIFQN-UHFFFAOYSA-N arginine Natural products OC(=O)C(N)CCCNC(N)=N ODKSFYDXXFIFQN-UHFFFAOYSA-N 0.000 claims 1
- 125000000613 asparagine group Chemical group N[C@@H](CC(N)=O)C(=O)* 0.000 claims 1
- 201000008937 atopic dermatitis Diseases 0.000 claims 1
- 239000003814 drug Substances 0.000 claims 1
- 239000003112 inhibitor Substances 0.000 claims 1
- 229960000310 isoleucine Drugs 0.000 claims 1
- AGPKZVBTJJNPAG-UHFFFAOYSA-N isoleucine Natural products CCC(C)C(N)C(O)=O AGPKZVBTJJNPAG-UHFFFAOYSA-N 0.000 claims 1
- 238000004519 manufacturing process Methods 0.000 claims 1
- 239000000546 pharmaceutical excipient Substances 0.000 claims 1
- 206010039073 rheumatoid arthritis Diseases 0.000 claims 1
- OUYCCCASQSFEME-UHFFFAOYSA-N tyrosine Natural products OC(=O)C(N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-UHFFFAOYSA-N 0.000 claims 1
- 241000701161 unidentified adenovirus Species 0.000 claims 1
Applications Claiming Priority (7)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| GBGB2011813.9A GB202011813D0 (en) | 2020-07-29 | 2020-07-29 | Polypeptide |
| GB2011813.9 | 2020-07-29 | ||
| GBGB2100648.1A GB202100648D0 (en) | 2021-01-18 | 2021-01-18 | Polypeptide |
| GB2100648.1 | 2021-01-18 | ||
| GB2105924.1 | 2021-04-26 | ||
| GBGB2105924.1A GB202105924D0 (en) | 2021-04-26 | 2021-04-26 | Polypeptide |
| PCT/GB2021/051969 WO2022023761A2 (en) | 2020-07-29 | 2021-07-29 | Polypeptide |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2023535808A JP2023535808A (ja) | 2023-08-21 |
| JP2023535808A5 JP2023535808A5 (https=) | 2024-08-07 |
| JPWO2022023761A5 true JPWO2022023761A5 (https=) | 2024-08-07 |
Family
ID=77265101
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2023506111A Pending JP2023535808A (ja) | 2020-07-29 | 2021-07-29 | 安定性の改善された変異型ベータ－グルコセレブロシダーゼ |
Country Status (16)
| Country | Link |
|---|---|
| US (1) | US20240261433A1 (https=) |
| EP (2) | EP4118200B1 (https=) |
| JP (1) | JP2023535808A (https=) |
| KR (1) | KR20230042513A (https=) |
| CN (1) | CN116322744A (https=) |
| AU (1) | AU2021316875B2 (https=) |
| BR (1) | BR112023001583A2 (https=) |
| CA (1) | CA3189801A1 (https=) |
| DK (1) | DK4118200T3 (https=) |
| ES (1) | ES3057448T3 (https=) |
| FI (1) | FI4118200T3 (https=) |
| HR (1) | HRP20251591T1 (https=) |
| IL (1) | IL299811A (https=) |
| MX (1) | MX2023001137A (https=) |
| PT (1) | PT4118200T (https=) |
| WO (1) | WO2022023761A2 (https=) |
Families Citing this family (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2025122912A1 (en) | 2023-12-08 | 2025-06-12 | Denali Therapeutics Inc. | Modified glucocerebrosidase polypeptides and methods of use thereof |
| WO2025166045A1 (en) | 2024-01-31 | 2025-08-07 | Alector Llc | β-GLUCOCEREBROSIDASE ENZYMES, FUSION PROTEINS AND COMPLEXES COMPRISING THE SAME, AND METHODS OF USE THEREOF |
| CN118086341B (zh) * | 2024-04-25 | 2024-08-02 | 上海凌医生物科技有限公司 | 在肝脏中高表达人源葡萄糖脑苷脂酶基因的表达框 |
| WO2026006173A1 (en) | 2024-06-24 | 2026-01-02 | Denali Therapeutics Inc. | Fusion proteins comprising modified glucocerebrosidase polypeptides and methods thereof |
Family Cites Families (13)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| AU1775901A (en) * | 1999-11-17 | 2001-05-30 | Avigen, Inc. | Recombinant adeno-associated virus virions for the treatment of lysosomal disorders |
| AU2352201A (en) * | 1999-12-30 | 2001-07-16 | Maxygen Aps | Improved lysosomal enzymes and lysosomal enzyme activators |
| EP2154969B1 (en) | 2007-05-16 | 2015-11-18 | The Brigham and Women's Hospital, Inc. | Treatment of synucleinopathies |
| WO2011122950A1 (en) | 2010-04-01 | 2011-10-06 | Amsterdam Molecular Therapeutics (Amt) Ip B.V. | Monomeric duplex aav vectors |
| SI2638152T1 (sl) * | 2010-11-08 | 2016-12-30 | Amicus Therapeutics, Inc. | Variantni in rekombinantni proteini beta-glukocerebrozidaze s povišano stabilnostjo in povišano ohranjeno katalitično aktivnostjo |
| AU2013243948A1 (en) * | 2012-04-02 | 2014-10-30 | Moderna Therapeutics, Inc. | Modified polynucleotides for the production of proteins associated with human disease |
| US9574184B2 (en) * | 2013-09-25 | 2017-02-21 | Children's Hospital Medical Center | Lysosomal protein targeting sequence and therapeutic applications of same |
| KR102450833B1 (ko) * | 2016-04-15 | 2022-10-05 | 더 트러스티스 오브 더 유니버시티 오브 펜실베니아 | 혈우병 a 치료용 유전자 요법 |
| EP3692075A4 (en) | 2017-10-03 | 2022-02-09 | Prevail Therapeutics, Inc. | GENE THERAPIES FOR LYSOSOMAL DISEASES |
| KR102709597B1 (ko) | 2017-10-03 | 2024-09-26 | 프리베일 테라퓨틱스, 인크. | 리소좀 장애를 위한 유전자 요법 |
| WO2020012149A1 (en) | 2018-07-13 | 2020-01-16 | Ucl Business Ltd | Glucocerebrosidase gene therapy |
| WO2020012164A1 (en) | 2018-07-13 | 2020-01-16 | Ucl Business Ltd | Glucocerebrosidase gene therapy |
| US20220125892A1 (en) * | 2019-02-01 | 2022-04-28 | OXYRANE UK Ltd. | Glucocerebrosidase polypeptides |
-
2021
- 2021-07-29 EP EP21752123.6A patent/EP4118200B1/en active Active
- 2021-07-29 KR KR1020237007296A patent/KR20230042513A/ko active Pending
- 2021-07-29 CA CA3189801A patent/CA3189801A1/en active Pending
- 2021-07-29 ES ES21752123T patent/ES3057448T3/es active Active
- 2021-07-29 MX MX2023001137A patent/MX2023001137A/es unknown
- 2021-07-29 DK DK21752123.6T patent/DK4118200T3/da active
- 2021-07-29 US US18/017,158 patent/US20240261433A1/en active Pending
- 2021-07-29 PT PT217521236T patent/PT4118200T/pt unknown
- 2021-07-29 HR HRP20251591TT patent/HRP20251591T1/hr unknown
- 2021-07-29 JP JP2023506111A patent/JP2023535808A/ja active Pending
- 2021-07-29 WO PCT/GB2021/051969 patent/WO2022023761A2/en not_active Ceased
- 2021-07-29 CN CN202180066422.7A patent/CN116322744A/zh active Pending
- 2021-07-29 IL IL299811A patent/IL299811A/en unknown
- 2021-07-29 FI FIEP21752123.6T patent/FI4118200T3/fi active
- 2021-07-29 BR BR112023001583A patent/BR112023001583A2/pt unknown
- 2021-07-29 AU AU2021316875A patent/AU2021316875B2/en active Active
- 2021-07-29 EP EP25199900.9A patent/EP4643868A3/en active Pending
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