CN115605596A - 用于基因表达的诱导型可变剪接调节的组合物和方法 - Google Patents

用于基因表达的诱导型可变剪接调节的组合物和方法 Download PDF

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Publication number
CN115605596A
CN115605596A CN202180027946.5A CN202180027946A CN115605596A CN 115605596 A CN115605596 A CN 115605596A CN 202180027946 A CN202180027946 A CN 202180027946A CN 115605596 A CN115605596 A CN 115605596A
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nucleic acid
sequence
acid molecule
exon
seq
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Chinese (zh)
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P·T·拉努姆
A·M·莫内斯
A·A·亨德利
B·L·戴维森
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Childrens Hospital of Philadelphia CHOP
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Childrens Hospital of Philadelphia CHOP
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    • 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
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
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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
    • C12N15/62—DNA sequences coding for fusion proteins
    • C12N15/625—DNA sequences coding for fusion proteins containing a sequence coding for a signal sequence
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/005—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from viruses
    • C07K14/01—DNA viruses
    • C07K14/015—Parvoviridae, e.g. feline panleukopenia virus, human parvovirus
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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
    • C12N15/11—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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    • C12N15/00—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
    • 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
    • A61K48/0075—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 delivery route, e.g. oral, subcutaneous
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/02—Fusion polypeptide containing a localisation/targetting motif containing a signal sequence
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/60—Fusion polypeptide containing spectroscopic/fluorescent detection, e.g. green fluorescent protein [GFP]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/33—Alteration of splicing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12N2840/00—Vectors comprising a special translation-regulating system
    • C12N2840/44—Vectors comprising a special translation-regulating system being a specific part of the splice mechanism, e.g. donor, acceptor

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  • Health & Medical Sciences (AREA)
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  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
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  • Molecular Biology (AREA)
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  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medicinal Chemistry (AREA)
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  • Biochemistry (AREA)
  • Epidemiology (AREA)
  • Veterinary Medicine (AREA)
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  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Virology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Toxicology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Adhesives Or Adhesive Processes (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Plural Heterocyclic Compounds (AREA)
  • Nitrogen And Oxygen Or Sulfur-Condensed Heterocyclic Ring Systems (AREA)
  • Medicinal Preparation (AREA)
CN202180027946.5A 2020-02-12 2021-02-12 用于基因表达的诱导型可变剪接调节的组合物和方法 Pending CN115605596A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202062975400P 2020-02-12 2020-02-12
US62/975,400 2020-02-12
PCT/US2021/017950 WO2021163556A1 (en) 2020-02-12 2021-02-12 Compositions and methods for inducible alternative splicing regulation of gene expression

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Publication Number Publication Date
CN115605596A true CN115605596A (zh) 2023-01-13

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US (1) US20230340498A1 (https=)
EP (1) EP4103717A4 (https=)
JP (1) JP7728772B2 (https=)
KR (1) KR20220146501A (https=)
CN (1) CN115605596A (https=)
AU (1) AU2021218807A1 (https=)
CA (1) CA3167836A1 (https=)
IL (1) IL295542A (https=)
WO (1) WO2021163556A1 (https=)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20210355509A1 (en) * 2018-08-07 2021-11-18 The Children's Hospital Of Philadelphia Alternative splicing regulation of gene expression and therapeutic methods
US20250129390A1 (en) * 2021-09-30 2025-04-24 Osaka University Method for producing cell having dna deletion specific to one of homologous chromosomes
EP4419692A4 (en) * 2021-10-22 2025-10-01 Fred Hutchinson Cancer Center SYNTHETIC INTRONS FOR TARGETED GENE EXPRESSION
US20250303000A1 (en) 2022-05-18 2025-10-02 The Children's Hospital Of Philadelphia Compositions and methods for inducible alternative splicing regulation of gene expression
WO2024060205A1 (zh) * 2022-09-23 2024-03-28 北京基驭医疗科技有限公司 包含基于小分子药物的可变剪接调节元件的核酸分子
EP4627095A2 (en) * 2022-11-28 2025-10-08 Siren Biotechnology, Inc. Gene therapy vectors for treatment of cancer
WO2024173699A2 (en) * 2023-02-16 2024-08-22 Mammoth Biosciences, Inc. Compositions for the treatment of spinal muscular atrophy
WO2024186892A2 (en) * 2023-03-06 2024-09-12 The Children's Hospital Of Philadelphia Regulated control of rna interference by alternative splicing
EP4701634A1 (en) 2023-04-28 2026-03-04 Kriya Therapeutics, Inc. Riboswitches for regulating gene expression and therapeutic methods of using the same
WO2024251925A1 (en) 2023-06-09 2024-12-12 F. Hoffmann-La Roche Ag Inducible gene expression system

Citations (4)

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Publication number Priority date Publication date Assignee Title
US20110086833A1 (en) * 2008-05-27 2011-04-14 Paushkin Sergey V Methods for treating spinal muscular atrophy
CN112805009A (zh) * 2018-08-07 2021-05-14 费城儿童医院 基因表达的选择性剪接调控及治疗方法
CN114174514A (zh) * 2019-07-25 2022-03-11 诺华股份有限公司 可调节的表达系统
WO2022204471A1 (en) * 2021-03-26 2022-09-29 Ptc Therapeutics Inc. Regulation of transgene expression using a small molecule inducible splicing switch

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US7838657B2 (en) * 2004-12-03 2010-11-23 University Of Massachusetts Spinal muscular atrophy (SMA) treatment via targeting of SMN2 splice site inhibitory sequences
GB2443186A (en) * 2006-10-25 2008-04-30 Oxitec Ltd Expression system for mediating alternative splicing
DK2812004T3 (en) * 2012-02-10 2018-10-15 Ptc Therapeutics Inc COMPOUNDS FOR TREATMENT OF SPINAL MUSCLE DROPHY
ES2771862T3 (es) * 2013-10-28 2020-07-07 Invectys Una vacuna de ADN que codifica telomerasa
CN108603230A (zh) * 2015-10-09 2018-09-28 南安普敦大学 基因表达的调节与蛋白质表达失调的筛选
EA201991309A1 (ru) * 2016-11-28 2019-11-29 Способы модуляции сплайсинга рнк

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110086833A1 (en) * 2008-05-27 2011-04-14 Paushkin Sergey V Methods for treating spinal muscular atrophy
CN112805009A (zh) * 2018-08-07 2021-05-14 费城儿童医院 基因表达的选择性剪接调控及治疗方法
CN114174514A (zh) * 2019-07-25 2022-03-11 诺华股份有限公司 可调节的表达系统
WO2022204471A1 (en) * 2021-03-26 2022-09-29 Ptc Therapeutics Inc. Regulation of transgene expression using a small molecule inducible splicing switch

Non-Patent Citations (1)

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Title
JAMES PALACINO等: "SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice", NATURE CHEMICAL BIOLOGY, vol. 11, 18 March 2016 (2016-03-18), pages 511 - 517 *

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Publication number Publication date
KR20220146501A (ko) 2022-11-01
JP7728772B2 (ja) 2025-08-25
WO2021163556A1 (en) 2021-08-19
US20230340498A1 (en) 2023-10-26
JP2023514242A (ja) 2023-04-05
EP4103717A1 (en) 2022-12-21
AU2021218807A1 (en) 2022-09-15
EP4103717A4 (en) 2024-02-28
IL295542A (en) 2022-10-01
CA3167836A1 (en) 2021-08-19

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