IL300526A - Approaches to SHANK3 gene therapy - Google Patents
Approaches to SHANK3 gene therapyInfo
- Publication number
- IL300526A IL300526A IL300526A IL30052623A IL300526A IL 300526 A IL300526 A IL 300526A IL 300526 A IL300526 A IL 300526A IL 30052623 A IL30052623 A IL 30052623A IL 300526 A IL300526 A IL 300526A
- Authority
- IL
- Israel
- Prior art keywords
- seq
- aav
- subject
- residues
- shank3
- Prior art date
Links
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|---|---|---|---|---|
| US5549910A (en) | 1989-03-31 | 1996-08-27 | The Regents Of The University Of California | Preparation of liposome and lipid complex compositions |
| US5252334A (en) | 1989-09-08 | 1993-10-12 | Cygnus Therapeutic Systems | Solid matrix system for transdermal drug delivery |
| JP3218637B2 (ja) | 1990-07-26 | 2001-10-15 | 大正製薬株式会社 | 安定なリポソーム水懸濁液 |
| JP2958076B2 (ja) | 1990-08-27 | 1999-10-06 | 株式会社ビタミン研究所 | 遺伝子導入用多重膜リポソーム及び遺伝子捕捉多重膜リポソーム製剤並びにその製法 |
| US5741516A (en) | 1994-06-20 | 1998-04-21 | Inex Pharmaceuticals Corporation | Sphingosomes for enhanced drug delivery |
| US5795587A (en) | 1995-01-23 | 1998-08-18 | University Of Pittsburgh | Stable lipid-comprising drug delivery complexes and methods for their production |
| US5697899A (en) | 1995-02-07 | 1997-12-16 | Gensia | Feedback controlled drug delivery system |
| US5738868A (en) | 1995-07-18 | 1998-04-14 | Lipogenics Ltd. | Liposome compositions and kits therefor |
| US5656016A (en) | 1996-03-18 | 1997-08-12 | Abbott Laboratories | Sonophoretic drug delivery system |
| US5797898A (en) | 1996-07-02 | 1998-08-25 | Massachusetts Institute Of Technology | Microchip drug delivery devices |
| US5783208A (en) | 1996-07-19 | 1998-07-21 | Theratech, Inc. | Transdermal drug delivery matrix for coadministering estradiol and another steroid |
| US5779708A (en) | 1996-08-15 | 1998-07-14 | Cyberdent, Inc. | Intraosseous drug delivery device and method |
| EP2345731B1 (en) | 2003-09-30 | 2015-10-21 | The Trustees of the University of Pennsylvania | Adeno-associated virus (AAV) clades, sequences, vectors containing same, and uses thereof |
| GB201103062D0 (en) | 2011-02-22 | 2011-04-06 | Isis Innovation | Method |
| ES2739288T3 (es) | 2013-09-13 | 2020-01-30 | California Inst Of Techn | Recuperación selectiva |
| KR102423442B1 (ko) | 2015-12-11 | 2022-07-20 | 캘리포니아 인스티튜트 오브 테크놀로지 | 아데노-관련 바이러스를 지시하기 위한 타겟팅 펩타이드 |
| KR102427379B1 (ko) | 2016-05-18 | 2022-08-02 | 보이저 테라퓨틱스, 인크. | 헌팅톤 질환을 치료하기 위한 조성물 및 방법 |
| US20220143214A1 (en) | 2019-01-30 | 2022-05-12 | The Broad Institute, Inc. | Systems for evolved adeno-associated viruses (aavs) for targeted delivery |
| IT201900008877A1 (it) * | 2019-06-13 | 2020-12-13 | Univ Bologna Alma Mater Studiorum | Nuovi costrutti per terapia genica |
-
2021
- 2021-08-17 CN CN202180070681.7A patent/CN116406305A/zh active Pending
- 2021-08-17 CA CA3192052A patent/CA3192052A1/en active Pending
- 2021-08-17 US US18/021,693 patent/US20230340041A1/en active Pending
- 2021-08-17 IL IL300526A patent/IL300526A/en unknown
- 2021-08-17 KR KR1020237009262A patent/KR20230051578A/ko active Pending
- 2021-08-17 JP JP2023512119A patent/JP2023539574A/ja active Pending
- 2021-08-17 AU AU2021328570A patent/AU2021328570A1/en active Pending
- 2021-08-17 WO PCT/US2021/046382 patent/WO2022040239A1/en not_active Ceased
- 2021-08-17 MX MX2023001998A patent/MX2023001998A/es unknown
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- 2021-08-17 BR BR112023003023A patent/BR112023003023A2/pt unknown
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| WO2022040239A1 (en) | 2022-02-24 |
| AU2021328570A1 (en) | 2023-03-09 |
| JP2023539574A (ja) | 2023-09-15 |
| US20230340041A1 (en) | 2023-10-26 |
| BR112023003023A2 (pt) | 2023-04-11 |
| MX2023001998A (es) | 2023-05-04 |
| CA3192052A1 (en) | 2022-02-24 |
| KR20230051578A (ko) | 2023-04-18 |
| WO2022040239A8 (en) | 2022-06-23 |
| CN116406305A (zh) | 2023-07-07 |
| EP4196494A1 (en) | 2023-06-21 |
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