JPWO2020168051A5 - - Google Patents
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- Publication number
- JPWO2020168051A5 JPWO2020168051A5 JP2021546888A JP2021546888A JPWO2020168051A5 JP WO2020168051 A5 JPWO2020168051 A5 JP WO2020168051A5 JP 2021546888 A JP2021546888 A JP 2021546888A JP 2021546888 A JP2021546888 A JP 2021546888A JP WO2020168051 A5 JPWO2020168051 A5 JP WO2020168051A5
- Authority
- JP
- Japan
- Prior art keywords
- gene
- base editor
- syndrome
- nucleobase
- adenosine
- 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.)
- Granted
Links
- OIRDTQYFTABQOQ-KQYNXXCUSA-N adenosine Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O OIRDTQYFTABQOQ-KQYNXXCUSA-N 0.000 claims 56
- 239000002126 C01EB10 - Adenosine Substances 0.000 claims 28
- 229960005305 adenosine Drugs 0.000 claims 28
- 230000004075 alteration Effects 0.000 claims 26
- 235000001014 amino acid Nutrition 0.000 claims 25
- 150000001413 amino acids Chemical group 0.000 claims 25
- 230000001105 regulatory effect Effects 0.000 claims 25
- 108091028043 Nucleic acid sequence Proteins 0.000 claims 23
- 150000007523 nucleic acids Chemical group 0.000 claims 23
- 108091033319 polynucleotide Proteins 0.000 claims 23
- 102000040430 polynucleotide Human genes 0.000 claims 23
- 239000002157 polynucleotide Substances 0.000 claims 23
- 238000000034 method Methods 0.000 claims 21
- 101710169336 5'-deoxyadenosine deaminase Proteins 0.000 claims 20
- 102000055025 Adenosine deaminases Human genes 0.000 claims 20
- 206010056886 Mucopolysaccharidosis I Diseases 0.000 claims 20
- 208000006289 Rett Syndrome Diseases 0.000 claims 19
- 108090000623 proteins and genes Proteins 0.000 claims 17
- 208000027073 Stargardt disease Diseases 0.000 claims 16
- 101000941879 Homo sapiens Leucine-rich repeat serine/threonine-protein kinase 2 Proteins 0.000 claims 15
- 102100032693 Leucine-rich repeat serine/threonine-protein kinase 2 Human genes 0.000 claims 15
- 239000008194 pharmaceutical composition Substances 0.000 claims 15
- 208000012902 Nervous system disease Diseases 0.000 claims 14
- 229920001184 polypeptide Polymers 0.000 claims 12
- 102000004196 processed proteins & peptides Human genes 0.000 claims 12
- 108090000765 processed proteins & peptides Proteins 0.000 claims 12
- 108010072388 Methyl-CpG-Binding Protein 2 Proteins 0.000 claims 11
- 102100039124 Methyl-CpG-binding protein 2 Human genes 0.000 claims 11
- 230000004568 DNA-binding Effects 0.000 claims 10
- 101150083522 MECP2 gene Proteins 0.000 claims 10
- 102100035028 Alpha-L-iduronidase Human genes 0.000 claims 9
- 101100021877 Homo sapiens LRRK2 gene Proteins 0.000 claims 9
- 101150022680 IDUA gene Proteins 0.000 claims 9
- 101150081013 LRRK2 gene Proteins 0.000 claims 9
- 208000018737 Parkinson disease Diseases 0.000 claims 9
- 230000004048 modification Effects 0.000 claims 9
- 238000012986 modification Methods 0.000 claims 9
- 108020004705 Codon Proteins 0.000 claims 8
- DHMQDGOQFOQNFH-UHFFFAOYSA-N Glycine Chemical compound NCC(O)=O DHMQDGOQFOQNFH-UHFFFAOYSA-N 0.000 claims 8
- 238000006467 substitution reaction Methods 0.000 claims 8
- 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 7
- 101150039555 ABCA4 gene Proteins 0.000 claims 7
- 101001019502 Homo sapiens Alpha-L-iduronidase Proteins 0.000 claims 7
- 239000013598 vector Substances 0.000 claims 7
- 230000000295 complement effect Effects 0.000 claims 6
- 230000000694 effects Effects 0.000 claims 5
- 238000000338 in vitro Methods 0.000 claims 5
- 208000024891 symptom Diseases 0.000 claims 5
- 239000004475 Arginine Substances 0.000 claims 4
- 239000004471 Glycine Substances 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
- MTCFGRXMJLQNBG-UHFFFAOYSA-N Serine Natural products OCC(N)C(O)=O MTCFGRXMJLQNBG-UHFFFAOYSA-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
- ODKSFYDXXFIFQN-UHFFFAOYSA-N arginine Natural products OC(=O)C(N)CCCNC(N)=N ODKSFYDXXFIFQN-UHFFFAOYSA-N 0.000 claims 4
- 210000004027 cell Anatomy 0.000 claims 4
- 235000018417 cysteine Nutrition 0.000 claims 4
- XUJNEKJLAYXESH-UHFFFAOYSA-N cysteine Natural products SCC(N)C(O)=O XUJNEKJLAYXESH-UHFFFAOYSA-N 0.000 claims 4
- HNDVDQJCIGZPNO-UHFFFAOYSA-N histidine Natural products OC(=O)C(N)CC1=CN=CN1 HNDVDQJCIGZPNO-UHFFFAOYSA-N 0.000 claims 4
- 108020005004 Guide RNA Proteins 0.000 claims 3
- 102220577899 Leucine-rich repeat serine/threonine-protein kinase 2_G2019S_mutation Human genes 0.000 claims 3
- 108091033409 CRISPR Proteins 0.000 claims 2
- 108010008532 Deoxyribonuclease I Proteins 0.000 claims 2
- 102000007260 Deoxyribonuclease I Human genes 0.000 claims 2
- 208000015178 Hurler syndrome Diseases 0.000 claims 2
- 108010003381 Iduronidase Proteins 0.000 claims 2
- XUJNEKJLAYXESH-REOHCLBHSA-N L-Cysteine Chemical compound SC[C@H](N)C(O)=O XUJNEKJLAYXESH-REOHCLBHSA-N 0.000 claims 2
- HNDVDQJCIGZPNO-YFKPBYRVSA-N L-histidine Chemical compound OC(=O)[C@@H](N)CC1=CN=CN1 HNDVDQJCIGZPNO-YFKPBYRVSA-N 0.000 claims 2
- 102220596654 Leucine-rich repeat serine/threonine-protein kinase 2_R1441C_mutation Human genes 0.000 claims 2
- 102220596659 Leucine-rich repeat serine/threonine-protein kinase 2_R1441H_mutation Human genes 0.000 claims 2
- 101000910035 Streptococcus pyogenes serotype M1 CRISPR-associated endonuclease Cas9/Csn1 Proteins 0.000 claims 2
- 230000027455 binding Effects 0.000 claims 2
- 102200058742 rs121909568 Human genes 0.000 claims 2
- 239000013607 AAV vector Substances 0.000 claims 1
- 101710172824 CRISPR-associated endonuclease Cas9 Proteins 0.000 claims 1
- 102220605874 Cytosolic arginine sensor for mTORC1 subunit 2_D10A_mutation Human genes 0.000 claims 1
- 208000025966 Neurological disease Diseases 0.000 claims 1
- 101710163270 Nuclease Proteins 0.000 claims 1
- 239000000539 dimer Substances 0.000 claims 1
- 239000003937 drug carrier Substances 0.000 claims 1
- 150000002632 lipids Chemical class 0.000 claims 1
- 239000000178 monomer Substances 0.000 claims 1
- 201000001119 neuropathy Diseases 0.000 claims 1
- 230000007823 neuropathy Effects 0.000 claims 1
- 208000033808 peripheral neuropathy Diseases 0.000 claims 1
- 125000003607 serino group Chemical group [H]N([H])[C@]([H])(C(=O)[*])C(O[H])([H])[H] 0.000 claims 1
- 239000013603 viral vector Substances 0.000 claims 1
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2024193416A JP2025032080A (ja) | 2019-02-13 | 2024-11-05 | 遺伝的疾患の治療用を含めアデノシンデアミナーゼ塩基エディターを用いて疾患関連遺伝子を編集する方法 |
Applications Claiming Priority (19)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201962805271P | 2019-02-13 | 2019-02-13 | |
| US62/805,271 | 2019-02-13 | ||
| US201962850919P | 2019-05-21 | 2019-05-21 | |
| US62/850,919 | 2019-05-21 | ||
| US201962852228P | 2019-05-23 | 2019-05-23 | |
| US201962852224P | 2019-05-23 | 2019-05-23 | |
| US62/852,224 | 2019-05-23 | ||
| US62/852,228 | 2019-05-23 | ||
| US201962873138P | 2019-07-11 | 2019-07-11 | |
| US62/873,138 | 2019-07-11 | ||
| US201962888867P | 2019-08-19 | 2019-08-19 | |
| US62/888,867 | 2019-08-19 | ||
| US201962931722P | 2019-11-06 | 2019-11-06 | |
| US62/931,722 | 2019-11-06 | ||
| US201962941569P | 2019-11-27 | 2019-11-27 | |
| US62/941,569 | 2019-11-27 | ||
| US202062966526P | 2020-01-27 | 2020-01-27 | |
| US62/966,526 | 2020-01-27 | ||
| PCT/US2020/018073 WO2020168051A1 (en) | 2019-02-13 | 2020-02-13 | Methods of editing a disease-associated gene using adenosine deaminase base editors, including for the treatment of genetic disease |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2024193416A Division JP2025032080A (ja) | 2019-02-13 | 2024-11-05 | 遺伝的疾患の治療用を含めアデノシンデアミナーゼ塩基エディターを用いて疾患関連遺伝子を編集する方法 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2022520080A JP2022520080A (ja) | 2022-03-28 |
| JPWO2020168051A5 true JPWO2020168051A5 (enExample) | 2023-02-21 |
| JP7586601B2 JP7586601B2 (ja) | 2024-11-19 |
Family
ID=72045106
Family Applications (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2021546888A Active JP7586601B2 (ja) | 2019-02-13 | 2020-02-13 | 遺伝的疾患の治療用を含めアデノシンデアミナーゼ塩基エディターを用いて疾患関連遺伝子を編集する方法 |
| JP2024193416A Pending JP2025032080A (ja) | 2019-02-13 | 2024-11-05 | 遺伝的疾患の治療用を含めアデノシンデアミナーゼ塩基エディターを用いて疾患関連遺伝子を編集する方法 |
Family Applications After (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2024193416A Pending JP2025032080A (ja) | 2019-02-13 | 2024-11-05 | 遺伝的疾患の治療用を含めアデノシンデアミナーゼ塩基エディターを用いて疾患関連遺伝子を編集する方法 |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US20230140953A1 (enExample) |
| EP (1) | EP3924484A4 (enExample) |
| JP (2) | JP7586601B2 (enExample) |
| KR (1) | KR20210127206A (enExample) |
| CN (2) | CN114040970B (enExample) |
| AU (1) | AU2020223306A1 (enExample) |
| CA (1) | CA3128876A1 (enExample) |
| WO (1) | WO2020168051A1 (enExample) |
Families Citing this family (22)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| ES2952978T3 (es) | 2018-03-14 | 2023-11-07 | Arbor Biotechnologies Inc | Sistemas y enzimas novedosos de direccionamiento a ADN de CRISPR |
| US12133884B2 (en) | 2018-05-11 | 2024-11-05 | Beam Therapeutics Inc. | Methods of substituting pathogenic amino acids using programmable base editor systems |
| WO2020051562A2 (en) | 2018-09-07 | 2020-03-12 | Beam Therapeutics Inc. | Compositions and methods for improving base editing |
| AU2020223060B2 (en) * | 2019-02-13 | 2023-04-13 | Beam Therapeutics Inc. | Compositions and methods for treating hemoglobinopathies |
| WO2020211780A1 (en) | 2019-04-15 | 2020-10-22 | Edigene Inc. | Methods and compositions for editing rnas |
| EP3997229A4 (en) | 2019-07-12 | 2024-07-03 | Peking University | TARGETED RNA EDITING BY HARNESSING ENDOGENOUS ADAR USING MODIFIED RNA |
| TW202128193A (zh) * | 2019-12-30 | 2021-08-01 | 大陸商博雅輯因（北京）生物科技有限公司 | 一種基於ｌｅａｐｅｒ技術治療ｍｐｓ ｉｈ的方法和組合物 |
| EP4103704A4 (en) * | 2020-02-13 | 2024-10-16 | Beam Therapeutics Inc. | Compositions and methods for engraftment of base edited cells |
| US20230340486A1 (en) * | 2020-07-27 | 2023-10-26 | The Children’S Hospital Of Philadelphia | In utero and postnatal gene editing and therapy for treatment of monogenic diseases, including mucopolysaccharidosis type 1h and other disorders |
| CA3196425A1 (en) * | 2020-10-21 | 2022-04-28 | Jin Billy Li | A screening platform for adar-recruiting guide rnas |
| CN117729931A (zh) * | 2021-05-14 | 2024-03-19 | 比姆医疗股份有限公司 | 用于治疗转甲状腺素蛋白淀粉样变性的组合物和方法 |
| CA3236778A1 (en) * | 2021-11-02 | 2023-05-11 | Erik SONTHEIMER | Nme2cas9 inlaid domain fusion proteins |
| JP2024543208A (ja) * | 2021-12-01 | 2024-11-19 | シェイプ セラピューティクス インコーポレイテッド | Ｌｒｒｋ２を標的としたｒｎａ編集のための遺伝子操作されたガイドｒｎａ及びポリヌクレオチド |
| CN117187220A (zh) * | 2022-03-08 | 2023-12-08 | 中国科学院遗传与发育生物学研究所 | 腺嘌呤脱氨酶及其在碱基编辑中的用途 |
| CN114686456B (zh) * | 2022-05-10 | 2023-02-17 | 中山大学 | 基于双分子脱氨酶互补的碱基编辑系统及其应用 |
| CA3266991A1 (en) * | 2022-09-08 | 2024-03-14 | Univ Court Univ Of Edinburgh | TREATMENT OF RETT SYNDROME |
| CN118931886A (zh) * | 2023-05-09 | 2024-11-12 | 北京齐禾生科生物科技有限公司 | 一种可作用于dna的腺苷脱氨酶及其应用 |
| WO2024233941A1 (en) * | 2023-05-11 | 2024-11-14 | Massachusetts Eye And Ear Infirmary | Base editing approaches to treat abca4-associated stargardt disease |
| WO2024238623A1 (en) * | 2023-05-15 | 2024-11-21 | University Of Georgia Research Foundation, Inc. | Doubly constrained peptides as allosteric inhibitors of leucine rich repeat kinase 2 |
| CN116836962B (zh) * | 2023-06-28 | 2024-04-05 | 微光基因(苏州)有限公司 | 工程化的腺苷脱氨酶及碱基编辑器 |
| CN120536418A (zh) * | 2024-02-26 | 2025-08-26 | 尧唐(上海)生物科技有限公司 | 一种脱氨酶变体、包含其的碱基编辑器及其应用 |
| WO2025184515A1 (en) * | 2024-02-29 | 2025-09-04 | Vesigen, Inc. | Arrdc1-mediated microvesicle-based delivery of therapeutic agents to cells and tissues of the eye |
Family Cites Families (8)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP2591356A1 (en) * | 2010-07-09 | 2013-05-15 | Ecole Polytechnique Fédérale de Lausanne (EPFL) | Method for in-vitro monitoring of neuronal disorders and use thereof |
| EP3207130B1 (en) * | 2014-10-14 | 2019-08-07 | Halozyme, Inc. | Compositions of adenosine deaminase-2 (ada2), variants thereof and methods of using same |
| KR20250103795A (ko) * | 2016-08-03 | 2025-07-07 | 프레지던트 앤드 펠로우즈 오브 하바드 칼리지 | 아데노신 핵염기 편집제 및 그의 용도 |
| AU2017342543B2 (en) * | 2016-10-14 | 2024-06-27 | President And Fellows Of Harvard College | AAV delivery of nucleobase editors |
| CN111417727A (zh) * | 2017-05-18 | 2020-07-14 | 博德研究所 | 用于靶向核酸编辑的系统、方法和组合物 |
| JP7454494B2 (ja) * | 2017-06-26 | 2024-03-22 | ザ・ブロード・インスティテュート・インコーポレイテッド | 標的化された核酸編集のためのｃｒｉｓｐｒ／ｃａｓ－アデニンデアミナーゼ系の組成物、系及び方法 |
| CN109306361B (zh) * | 2018-02-11 | 2022-06-28 | 华东师范大学 | 一种新的a/t到g/c碱基定点转换的基因编辑系统 |
| CN109295186B (zh) * | 2018-09-30 | 2023-10-03 | 中山大学 | 一种基于全基因组测序检测腺嘌呤单碱基编辑系统脱靶效应的方法及其在基因编辑中的应用 |
-
2020
- 2020-02-13 EP EP20756724.9A patent/EP3924484A4/en active Pending
- 2020-02-13 KR KR1020217029268A patent/KR20210127206A/ko active Pending
- 2020-02-13 AU AU2020223306A patent/AU2020223306A1/en active Pending
- 2020-02-13 US US17/430,672 patent/US20230140953A1/en active Pending
- 2020-02-13 CN CN202080028186.5A patent/CN114040970B/zh active Active
- 2020-02-13 CN CN202411269394.0A patent/CN119280261A/zh active Pending
- 2020-02-13 WO PCT/US2020/018073 patent/WO2020168051A1/en not_active Ceased
- 2020-02-13 CA CA3128876A patent/CA3128876A1/en active Pending
- 2020-02-13 JP JP2021546888A patent/JP7586601B2/ja active Active
-
2024
- 2024-11-05 JP JP2024193416A patent/JP2025032080A/ja active Pending
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