JP2021513866A - アンジェルマン症候群を処置する方法および組成物 - Google Patents

アンジェルマン症候群を処置する方法および組成物 Download PDF

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JP2021513866A
JP2021513866A JP2020544787A JP2020544787A JP2021513866A JP 2021513866 A JP2021513866 A JP 2021513866A JP 2020544787 A JP2020544787 A JP 2020544787A JP 2020544787 A JP2020544787 A JP 2020544787A JP 2021513866 A JP2021513866 A JP 2021513866A
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ube3a
ats
nucleotide sequence
nucleic acid
crispr
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JP2021513866A5 (enExample
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ジルカ，マーク・ジョン
ウォルター，ジャスティン・マシュー
フラゴラ，ジュリア
サイモン，ジェレミー・マーク
マオ，ハンチン
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ザ・ユニヴァーシティ・オヴ・ノース・キャロライナ・アト・チャペル・ヒル
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    • C—CHEMISTRY; METALLURGY
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    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61K31/00—Medicinal preparations containing organic active ingredients
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    • A—HUMAN NECESSITIES
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    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
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    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/465—Hydrolases (3) acting on ester bonds (3.1), e.g. lipases, ribonucleases
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C12N9/22—Ribonucleases [RNase]; Deoxyribonucleases [DNase]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPR]
    • C—CHEMISTRY; METALLURGY
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    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2800/00—Nucleic acids vectors
    • C12N2800/80—Vectors containing sites for inducing double-stranded breaks, e.g. meganuclease restriction sites

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  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
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  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
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  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
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  • General Chemical & Material Sciences (AREA)
  • Neurosurgery (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
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  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Neurology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Virology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
JP2020544787A 2018-02-27 2019-02-27 アンジェルマン症候群を処置する方法および組成物 Pending JP2021513866A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862635815P 2018-02-27 2018-02-27
US62/635,815 2018-02-27
PCT/US2019/019789 WO2019168950A1 (en) 2018-02-27 2019-02-27 Methods and compositions for treating angelman syndrome

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JP2021513866A true JP2021513866A (ja) 2021-06-03
JP2021513866A5 JP2021513866A5 (enExample) 2022-03-09

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US (1) US20210054370A1 (enExample)
EP (1) EP3758714A4 (enExample)
JP (1) JP2021513866A (enExample)
CN (1) CN111770758A (enExample)
CA (1) CA3091912A1 (enExample)
WO (1) WO2019168950A1 (enExample)

Families Citing this family (11)

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Publication number Priority date Publication date Assignee Title
AU2019255789B2 (en) 2018-04-19 2025-11-20 The Regents Of The University Of California Compositions and methods for gene editing
SG11202113253SA (en) 2019-06-07 2021-12-30 Scribe Therapeutics Inc Engineered casx systems
WO2021126087A1 (en) 2019-12-18 2021-06-24 National University Of Singapore Method for treating angelman syndrome and related disorders
WO2021222232A1 (en) * 2020-04-28 2021-11-04 The Trustees Of The University Of Pennsylvania Compositions and uses thereof for treatment of angelman syndrome
AU2021392719B2 (en) 2020-12-03 2025-08-14 Scribe Therapeutics Inc. Engineered class 2 type v crispr systems
WO2023168000A1 (en) * 2022-03-03 2023-09-07 The Regents Of The University Of California Compositions and methods for treatment of angelman syndrome
WO2023184108A1 (en) * 2022-03-28 2023-10-05 Huigene Therapeutics Co., Ltd. Crispr-cas13 system for treating ube3a-associated diseases
CN116004788B (zh) * 2022-08-01 2024-05-31 湖南家辉生物技术有限公司 一种Angelman综合症致病基因UBE3A突变位点的应用及其诊断试剂
WO2026006542A2 (en) * 2024-06-26 2026-01-02 Yale University Compositions and methods for crispr/cas9 based reactivation of human angelman syndrome
CN121992041A (zh) * 2024-11-06 2026-05-08 中国科学院脑科学与智能技术卓越创新中心 靶向ube3a等位基因建立天使综合征动物模型的方法和应用
CN119177283B (zh) * 2024-11-25 2025-03-07 嘉检(广州)生物工程技术有限公司 用于pws/as快速诊断的引物组、试剂盒及系统

Citations (3)

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US20140242699A1 (en) * 2012-12-12 2014-08-28 Massachusetts Institute Of Technology Delivery, engineering and optimization of systems, methods and compositions for sequence manipulation and therapeutic applications
JP2015529635A (ja) * 2012-06-25 2015-10-08 アイシス ファーマシューティカルズ， インコーポレーテッド Ｕｂｅ３ａ−ａｔｓ発現の調節
WO2017048466A1 (en) * 2015-09-15 2017-03-23 The Regents Of The University Of California Compositions and methods for delivering biotherapeutics

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WO2016028843A2 (en) * 2014-08-19 2016-02-25 President And Fellows Of Harvard College Rna-guided systems for probing and mapping of nucleic acids
WO2016086104A1 (en) * 2014-11-25 2016-06-02 Ionis Pharmaceuticals, Inc. Modulation of ube3a-ats expression
EP3443081A4 (en) * 2016-04-13 2019-10-30 Duke University CRISPR / CAS9-BASED REPRESSORS FOR IN VIVO SHUT-OFF OF GEN-TARGETS AND METHOD OF USE
EP3716767A4 (en) * 2017-10-24 2021-11-24 Sangamo Therapeutics, Inc. METHODS AND COMPOSITIONS FOR TREATMENT OF RARE DISEASES
PL3717646T3 (pl) * 2017-12-01 2025-10-27 The Texas A&M University System Leczenie antysensowe zespołu angelmana
EP3720508A4 (en) * 2017-12-08 2021-09-01 University of Connecticut COMPOSITIONS AND METHODS FOR TREATMENT OF GENOMIC FOOTPRINT DISORDERS

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JP2015529635A (ja) * 2012-06-25 2015-10-08 アイシス ファーマシューティカルズ， インコーポレーテッド Ｕｂｅ３ａ−ａｔｓ発現の調節
US20140242699A1 (en) * 2012-12-12 2014-08-28 Massachusetts Institute Of Technology Delivery, engineering and optimization of systems, methods and compositions for sequence manipulation and therapeutic applications
JP2016501531A (ja) * 2012-12-12 2016-01-21 ザ・ブロード・インスティテュート・インコーポレイテッド 配列操作および治療適用のための系、方法および組成物の送達、エンジニアリングおよび最適化
WO2017048466A1 (en) * 2015-09-15 2017-03-23 The Regents Of The University Of California Compositions and methods for delivering biotherapeutics

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Publication number Publication date
EP3758714A1 (en) 2021-01-06
EP3758714A4 (en) 2021-12-01
CN111770758A (zh) 2020-10-13
WO2019168950A1 (en) 2019-09-06
CA3091912A1 (en) 2019-09-06
US20210054370A1 (en) 2021-02-25

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