JP7616668B2 - Ube3a遺伝子および発現カセットならびにそれらの使用 - Google Patents

Ube3a遺伝子および発現カセットならびにそれらの使用 Download PDF

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JP7616668B2
JP7616668B2 JP2021569494A JP2021569494A JP7616668B2 JP 7616668 B2 JP7616668 B2 JP 7616668B2 JP 2021569494 A JP2021569494 A JP 2021569494A JP 2021569494 A JP2021569494 A JP 2021569494A JP 7616668 B2 JP7616668 B2 JP 7616668B2
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vector
ube3a
expression cassette
polynucleotide
aav
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JP2022533448A (ja
JP2022533448A5 (enExample
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フィルポット,ベンジャミン・デイヴィッド
グレイ,スティーブン・ジェイムズ
シン,チャールズ
ジャドソン,マシュー
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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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    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A61K48/0058—Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
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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
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
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    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • 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
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/93—Ligases (6)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/075—Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
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    • A01K2267/0306—Animal model for genetic diseases
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    • 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
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2800/00—Nucleic acids vectors
    • C12N2800/10—Plasmid DNA
    • C12N2800/106—Plasmid DNA for vertebrates
    • C12N2800/107—Plasmid DNA for vertebrates for mammalian
    • 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
    • C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host

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  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
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  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Epidemiology (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Virology (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
JP2021569494A 2019-05-22 2020-05-22 Ube3a遺伝子および発現カセットならびにそれらの使用 Active JP7616668B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962851411P 2019-05-22 2019-05-22
US62/851,411 2019-05-22
PCT/US2020/034171 WO2020237130A1 (en) 2019-05-22 2020-05-22 Ube3a genes and expression cassettes and their use

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JP2022533448A JP2022533448A (ja) 2022-07-22
JP2022533448A5 JP2022533448A5 (enExample) 2023-10-31
JP7616668B2 true JP7616668B2 (ja) 2025-01-17

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US (2) US12465655B2 (enExample)
EP (1) EP3973059A4 (enExample)
JP (1) JP7616668B2 (enExample)
KR (1) KR20210158859A (enExample)
CN (1) CN114127296B (enExample)
AU (1) AU2020279387B2 (enExample)
CA (1) CA3139678A1 (enExample)
EA (1) EA202193214A1 (enExample)
IL (1) IL287943A (enExample)
MX (1) MX2021014248A (enExample)
SG (1) SG11202112470YA (enExample)
WO (1) WO2020237130A1 (enExample)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2022119890A1 (en) * 2020-12-01 2022-06-09 The Trustees Of The University Of Pennsylvania Compositions and uses thereof for treatment of angelman syndrome
JP2025520199A (ja) * 2022-06-07 2025-07-01 キチョー インク. 発現を調節するための薬剤
US20240261438A1 (en) * 2023-02-08 2024-08-08 Ginkgo Bioworks, Inc. Gene therapy for angelman syndrome
WO2025128816A1 (en) * 2023-12-13 2025-06-19 Kicho Inc. Methods of modulating expression of ube3a gene
WO2025213123A1 (en) * 2024-04-05 2025-10-09 Encoded Therapeutics, Inc. Methods and compositions for increasing expression of ube3a

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2018518946A (ja) 2015-05-07 2018-07-19 ユニヴァーシティ オブ サウス フロリダ アンジェルマン症候群の遺伝子治療法のための組み換えube3a遺伝子
WO2019006107A1 (en) 2017-06-28 2019-01-03 University Of South Florida MODIFIED UBE3A GENE FOR GENE THERAPY APPROACH TO ANGELMAN'S SYNDROME

Family Cites Families (22)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4501729A (en) 1982-12-13 1985-02-26 Research Corporation Aerosolized amiloride treatment of retained pulmonary secretions
US5399346A (en) 1989-06-14 1995-03-21 The United States Of America As Represented By The Department Of Health And Human Services Gene therapy
US5478745A (en) 1992-12-04 1995-12-26 University Of Pittsburgh Recombinant viral vector system
US6040183A (en) 1995-06-07 2000-03-21 University Of North Carloina At Chapel Hill Helper virus-free AAV production
US6093570A (en) 1995-06-07 2000-07-25 The University Of North Carolina At Chapel Hill Helper virus-free AAV production
AU4645697A (en) 1996-09-11 1998-04-02 Government Of The United States Of America, As Represented By The Secretary Of The Department Of Health And Human Services, The Aav4 vector and uses thereof
US6156303A (en) 1997-06-11 2000-12-05 University Of Washington Adeno-associated virus (AAV) isolates and AAV vectors derived therefrom
DE69939169D1 (de) 1998-05-28 2008-09-04 Us Gov Health & Human Serv Aav5 vektoren und deren verwendung
AU774706B2 (en) 1998-09-22 2004-07-08 Johns Hopkins University, The Methods for large-scale production of recombinant AAV vectors
DE69936104T2 (de) 1998-11-05 2008-01-17 The Trustees Of The University Of Pennsylvania Nukleinsäuresequenzen des adeno-assoziierten virus des serotyps i, und vektoren und wirtszellen, die diese enthalten
EP1135468B1 (en) 1998-11-10 2010-01-06 University Of North Carolina At Chapel Hill Virus vectors and methods of making and administering the same
US7465583B2 (en) 2000-06-01 2008-12-16 The University Of North Carolina At Chapel Hill Duplexed parvovirus vectors
AU6814901A (en) 2000-06-01 2001-12-11 Univ North Carolina Methods and compounds for controlled release of recombinant parvovirus vectors
ES2809199T3 (es) * 2012-06-25 2021-03-03 Ionis Pharmaceuticals Inc Modulación de la expresión de UBE3A-ATS
PL2900686T3 (pl) 2012-09-28 2021-01-25 The University Of North Carolina At Chapel Hill Wektory aav ukierunkowane na oligodendrocyty
KR20250012194A (ko) * 2013-06-17 2025-01-23 더 브로드 인스티튜트, 인코퍼레이티드 바이러스 구성성분을 사용하여 장애 및 질환을 표적화하기 위한 crispr-cas 시스템 및 조성물의 전달, 용도 및 치료 적용
WO2015060722A1 (en) * 2013-10-24 2015-04-30 Uniqure Ip B.V. Aav-5 pseudotyped vector for gene therapy for neurological diseases
AU2015349759B2 (en) 2014-11-21 2022-01-06 The University Of North Carolina At Chapel Hill Aav vectors targeted to the central nervous system
US20180346531A1 (en) * 2015-09-15 2018-12-06 Regents Of The University Of California Compositions and methods for delivering biotherapeutics
HK1258434A1 (zh) 2015-11-12 2019-11-08 F. Hoffmann-La Roche Ag 来自灵长类物种的标准化神经元细胞测定试验
EP3941530A4 (en) 2019-03-21 2022-12-14 PTC Therapeutics, Inc. ANGELMAN SYNDROME TREATMENT VECTOR AND PROCEDURES
AU2020334924A1 (en) 2019-08-22 2022-04-07 The Regents Of The University Of California UBE3A for the treatment of Angelman syndrome

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2018518946A (ja) 2015-05-07 2018-07-19 ユニヴァーシティ オブ サウス フロリダ アンジェルマン症候群の遺伝子治療法のための組み換えube3a遺伝子
WO2019006107A1 (en) 2017-06-28 2019-01-03 University Of South Florida MODIFIED UBE3A GENE FOR GENE THERAPY APPROACH TO ANGELMAN'S SYNDROME

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
Am. J. Med. Genet.,Vol.176A,2018年,pp.1641-1647
Cell Reports,2019年,Vol.26,pp.594-607
Gene Therapy,2017年,Vol.24,pp.735-741
GENOMICS,1997年,Vol.41,pp.263-266
Strausberg,R.L., et al.,Accession no. BC002582.2 [online], DEFINITION: Homo sapiens ubiquitin protein ligase E3A, mRNA (cDNA clone MGC:2086 IMAGE:3160225), complete cds.,Database GenBank/EMBL/DDBJ/GeneSeq,インターネット <URL: https://www.ncbi.nlm.nih.gov/nucleotide/BC002582.2>,[検索日 2024.4.12]
Wakamatsu,A., et al.,Accession no. AK292514.1 [online], DEFINITION: Homo sapiens cDNA FLJ77614 complete cds, highly similar to Homo sapiens ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) (UBE3A), transcript variant 3, mRNA.,Database GenBank/EMBL/DDBJ/GeneSeq,インターネット <URL: https://www.ncbi.nlm.nih.gov/nucleotide/AK292514.1>,[検索日 2024.4.12]

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WO2020237130A1 (en) 2020-11-26
AU2020279387A1 (en) 2021-12-09
EP3973059A4 (en) 2023-10-25
CA3139678A1 (en) 2020-11-26
EP3973059A1 (en) 2022-03-30
AU2020279387B2 (en) 2026-07-23
JP2022533448A (ja) 2022-07-22
EA202193214A1 (ru) 2022-03-14
US20260102519A1 (en) 2026-04-16
KR20210158859A (ko) 2021-12-31
CN114127296A (zh) 2022-03-01
SG11202112470YA (en) 2021-12-30
US12465655B2 (en) 2025-11-11
CN114127296B (zh) 2024-10-25
US20220241434A1 (en) 2022-08-04
IL287943A (en) 2022-01-01
MX2021014248A (es) 2022-01-06

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