KR102814622B1 - 단백질 발현 증가용 및/또는 반가불충분성 장애 치료용 방법 및 조성물 - Google Patents

단백질 발현 증가용 및/또는 반가불충분성 장애 치료용 방법 및 조성물 Download PDF

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KR102814622B1
KR102814622B1 KR1020217012452A KR20217012452A KR102814622B1 KR 102814622 B1 KR102814622 B1 KR 102814622B1 KR 1020217012452 A KR1020217012452 A KR 1020217012452A KR 20217012452 A KR20217012452 A KR 20217012452A KR 102814622 B1 KR102814622 B1 KR 102814622B1
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syndrome
trna
gene
certain embodiments
expression
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KR20210091699A (ko
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제프리 엠 콜러
토마스 스위트
하비 로디쉬
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케이스 웨스턴 리저브 유니버시티
화이트헤드 인스티튜트 포 바이오메디칼 리서치
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    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
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    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
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    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector

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  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
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  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Virology (AREA)
  • Pain & Pain Management (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
KR1020217012452A 2018-09-26 2019-09-26 단백질 발현 증가용 및/또는 반가불충분성 장애 치료용 방법 및 조성물 Active KR102814622B1 (ko)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862736847P 2018-09-26 2018-09-26
US62/736,847 2018-09-26
PCT/US2019/053268 WO2020069199A1 (en) 2018-09-26 2019-09-26 Methods and compositions for increasing protein expression and/or treating a haploinsufficiency disorder

Publications (2)

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KR20210091699A KR20210091699A (ko) 2021-07-22
KR102814622B1 true KR102814622B1 (ko) 2025-05-29

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US (1) US12281314B2 (enExample)
EP (1) EP3856905A4 (enExample)
JP (2) JP2022502044A (enExample)
KR (1) KR102814622B1 (enExample)
CN (1) CN113195719A (enExample)
AU (1) AU2019350871A1 (enExample)
BR (1) BR112021005788A2 (enExample)
CA (1) CA3114109A1 (enExample)
CL (1) CL2021000747A1 (enExample)
CO (1) CO2021005040A2 (enExample)
EA (1) EA202190736A1 (enExample)
IL (1) IL281848A (enExample)
MX (1) MX2021003567A (enExample)
WO (1) WO2020069199A1 (enExample)
ZA (1) ZA202102302B (enExample)

Families Citing this family (7)

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Publication number Priority date Publication date Assignee Title
MX2022005362A (es) * 2019-11-04 2022-09-23 Flagship Pioneering Inc Composiciones de trem para codones con-raros y usos relacionados.
EP4158031A1 (en) * 2020-05-29 2023-04-05 Flagship Pioneering Innovations VI, LLC Trem compositions and methods relating thereto
AU2021281453A1 (en) * 2020-05-29 2022-11-17 Flagship Pioneering Innovations Vi, Llc. Trem compositions and methods relating thereto
BR112023022805A2 (pt) * 2021-05-05 2024-01-16 Tevard Biosciences Inc Métodos e composições para tratamento de um distúrbio mediado por códon de terminação prematura
TW202405173A (zh) 2022-04-18 2024-02-01 美商維泰克斯製藥公司 用於增強aav療法及降低aav向肝臟之趨性的組合物及方法
CN117257958B (zh) * 2023-11-21 2024-02-09 四川大学华西医院 Trps1抑制剂的新用途及用于治疗和/或预防雄激素性秃发的药物
WO2025176166A1 (en) * 2024-02-21 2025-08-28 Zhuhai Codone Biotechnology Co., Ltd. Engineered trna expression cassette

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2006280250A (ja) 2005-03-31 2006-10-19 Toyobo Co Ltd 部位特異的アミノ酸導入法のための新規な直交化ｔＲＮＡ
US20080254540A1 (en) 2007-04-13 2008-10-16 The Salk Institute Ofr Biological Studies METHODS OF GENETICALLY ENCODING UNNATURAL AMINO ACIDS IN EUKARYOTIC CELLS USING ORTHOGONAL tRNA/SYNTHETASE PAIRS

Family Cites Families (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2002525048A (ja) 1998-09-17 2002-08-13 スミスクライン・ビーチャム・コーポレイション Ｒｎａｓｅｐポリペプチド
US20040142325A1 (en) 2001-09-14 2004-07-22 Liat Mintz Methods and systems for annotating biomolecular sequences
US20120283116A1 (en) * 2009-09-11 2012-11-08 Leppert Mark F Mutant Sodium Channel Nav1.7 and Methods Related Thereto
WO2012006551A2 (en) 2010-07-08 2012-01-12 The Brigham And Women's Hospital, Inc. Neuroprotective molecules and methods of treating neurological disorders and inducing stress granules
US20130129668A1 (en) * 2011-09-01 2013-05-23 The Regents Of The University Of California Diagnosis and treatment of arthritis using epigenetics
CA2922005A1 (en) 2012-09-27 2014-04-03 Population Diagnostics, Inc. Methods and compositions for screening and treating developmental disorders
WO2015048989A1 (en) 2013-10-02 2015-04-09 Wageningen Universiteit Systematic optimization of coding sequence for functional protein expression
US20180313836A1 (en) 2015-10-15 2018-11-01 The Scripps Research Institute BINDING ACTIVITY OF AMINOACYL-tRNA SYNTHETASE IN CHARCOT-MARIE-TOOTH (CMT) NEUROPATHY AND CMT-RELATED NEUROLOGICAL DISEASES
KR102604132B1 (ko) * 2015-12-14 2023-11-17 콜드스프링하버러보러토리 상염색체 우성 정신 지체 5 및 드라베 증후군의 치료를 위한 안티센스 올리고머
US11859234B2 (en) 2016-05-06 2024-01-02 The Trustees Of Princeton University Method of monitoring RNase L activity
PL3458074T3 (pl) 2016-05-16 2024-11-12 Board Of Regents Of The University Of Texas System KOMPOZYCJA DO DOSTARCZANIA tRNA W POSTACI NANOCZĄSTEK I SPOSOBY ICH STOSOWANIA
WO2018104385A1 (en) 2016-12-07 2018-06-14 MAX-PLANCK-Gesellschaft zur Förderung der Wissenschaften e.V. Codon optimization
WO2020243560A1 (en) 2019-05-31 2020-12-03 Flagship Pioneering, Inc. Uses of trem compositions to modulate trna pools

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2006280250A (ja) 2005-03-31 2006-10-19 Toyobo Co Ltd 部位特異的アミノ酸導入法のための新規な直交化ｔＲＮＡ
US20080254540A1 (en) 2007-04-13 2008-10-16 The Salk Institute Ofr Biological Studies METHODS OF GENETICALLY ENCODING UNNATURAL AMINO ACIDS IN EUKARYOTIC CELLS USING ORTHOGONAL tRNA/SYNTHETASE PAIRS

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
Plos Biology, Vol.15(5) e2000779, pp.1-29 (2017.05.16.)*

Also Published As

Publication number Publication date
MX2021003567A (es) 2021-08-24
CN113195719A (zh) 2021-07-30
AU2019350871A1 (en) 2021-05-20
KR20210091699A (ko) 2021-07-22
EA202190736A1 (ru) 2021-09-16
BR112021005788A2 (pt) 2021-10-26
US12281314B2 (en) 2025-04-22
JP2025010148A (ja) 2025-01-20
JP2022502044A (ja) 2022-01-11
CO2021005040A2 (es) 2021-09-20
EP3856905A4 (en) 2023-06-21
CA3114109A1 (en) 2020-04-02
CL2021000747A1 (es) 2021-10-22
ZA202102302B (en) 2022-04-28
IL281848A (en) 2021-05-31
US20220073933A1 (en) 2022-03-10
WO2020069199A1 (en) 2020-04-02
EP3856905A1 (en) 2021-08-04

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