RU2019143627A - Модифицированный ген ube3a для генной терапии синдрома ангельмана - Google Patents

Модифицированный ген ube3a для генной терапии синдрома ангельмана Download PDF

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RU2019143627A
RU2019143627A RU2019143627A RU2019143627A RU2019143627A RU 2019143627 A RU2019143627 A RU 2019143627A RU 2019143627 A RU2019143627 A RU 2019143627A RU 2019143627 A RU2019143627 A RU 2019143627A RU 2019143627 A RU2019143627 A RU 2019143627A
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sequence
vector
ube3a
seq
transcription
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RU2019143627A
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RU2019143627A3 (ru
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Кейвин Рон НЭШ
Эдвин Джон ВЕЕБЕР
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Юниверсити Оф Соус Флорида
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    • A—HUMAN NECESSITIES
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    • A—HUMAN NECESSITIES
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    • A61K48/0058—Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • A—HUMAN NECESSITIES
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    • A61K48/0066—Manipulation of the nucleic acid to modify its expression pattern, e.g. enhance its duration of expression, achieved by the presence of particular introns in the delivered nucleic acid
    • A—HUMAN NECESSITIES
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    • 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
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    • C12Y603/00—Ligases forming carbon-nitrogen bonds (6.3)
    • C12Y603/02—Acid—amino-acid ligases (peptide synthases)(6.3.2)
    • C12Y603/02019—Ubiquitin-protein ligase (6.3.2.19), i.e. ubiquitin-conjugating enzyme
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    • C12N2810/85—Vectors comprising as targeting moiety peptide derived from defined protein from vertebrates mammalian
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    • C12N2840/00—Vectors comprising a special translation-regulating system
    • C12N2840/007—Vectors comprising a special translation-regulating system cell or tissue specific

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Claims (15)

1. Вектор UBE3A, содержащий
последовательность инициации транскрипции;
последовательность UBE3A, расположенную после последовательности инициации транскрипции, или гомологичную последовательность;
последовательность секреции, расположенную после последовательности инициации транскрипции, или гомологичную последовательность;
и последовательность поглощения клетки, расположенную после последовательности инициации транскрипции, причем последовательность поглощения клетки представляет собой пенетратин, R6W3 или pVEC, или гомологичную последовательность.
2. Вектор по п. 1, где последовательность инициации транскрипции представляет собой цитомегаловирусный гибрид бета-актинового промотора цыпленка или промотора убиквитина С человека.
3. Вектор по п. 2, дополнительно содержащий последовательность энхансера немедленного раннего цитомегаловируса, расположенную выше последовательности инициации транскрипции.
4. Вектор по п. 1, дополнительно включающий посттранскрипционный регуляторный элемент сурка.
5. Вектор по п. 1, дополнительно содержащий плазмиду, в которой плазмида представляет собой плазмиду на основе серотипа 2 рекомбинантного аденоассоциированного вируса, и в которой плазмида на основе серотипа 2 рекомбинантного аденоассоциированного вируса не имеет элементов интеграции ДНК.
6. Вектор по п. 1, в котором секреционная последовательность расположена перед последовательностью UBE3A.
7. Вектор по п. 1, в котором последовательность поглощения клеток расположена перед последовательностью UBE3A и после последовательности секреции.
8. Вектор по п. 1, где секреционной последовательностью является инсулин, GDN F или IgK.
9. Применение композиции для лечения нейродегенеративного расстройства, характеризующегося дефицитом UBE3A, содержащая вектор UBE3A; и фармацевтически приемлемый носитель.
10. Композици по п. 1, где нейродегенеративным расстройством является синдром Ангельмана.
11. Вектор по п. 1, в котором последовательность UBE3A представляет собой SEQ ID No: 9, SEQ ID No: 14, SEQ ID No: 15, SEQ ID No: 17, кДНК SEQ ID No: 10 или кДНК SEQ ID No: 16 или гомологичную последовательность.
RU2019143627A 2017-06-28 2018-06-28 Модифицированный ген ube3a для генной терапии синдрома ангельмана RU2019143627A (ru)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201762525787P 2017-06-28 2017-06-28
US62/525,787 2017-06-28
PCT/US2018/039980 WO2019006107A1 (en) 2017-06-28 2018-06-28 MODIFIED UBE3A GENE FOR GENE THERAPY APPROACH TO ANGELMAN'S SYNDROME

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RU2019143627A true RU2019143627A (ru) 2021-07-28
RU2019143627A3 RU2019143627A3 (ru) 2022-04-07

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US (1) US20200113955A1 (ru)
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JP (2) JP2020528739A (ru)
CN (1) CN110869031A (ru)
AU (1) AU2018291137A1 (ru)
BR (1) BR112019027692A2 (ru)
CA (1) CA3068304A1 (ru)
CO (1) CO2020000679A2 (ru)
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EP3374498A1 (en) 2015-11-12 2018-09-19 H. Hoffnabb-La Roche Ag Standardized neuronal cell assays from primate species
WO2020159965A1 (en) * 2019-01-30 2020-08-06 University Of South Florida Method for detection and analysis of cerebrospinal fluid associated ube3a
WO2020191366A1 (en) * 2019-03-21 2020-09-24 Ptc Therapeutics, Inc. Vector and method for treating angelman syndrome
AU2020279387A1 (en) * 2019-05-22 2021-12-09 The University Of North Carolina At Chapel Hill UBE3A genes and expression cassettes and their use
AU2021392642A1 (en) 2020-12-01 2023-06-22 The Trustees Of The University Of Pennsylvania Compositions and uses thereof for treatment of angelman syndrome
WO2022272171A2 (en) * 2021-06-25 2022-12-29 University Of South Florida Secreted ube3a for treatment of neurological disorders

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BR112019027692A2 (pt) 2020-11-24
AU2018291137A2 (en) 2020-03-26
CO2020000679A2 (es) 2020-01-31
AU2018291137A1 (en) 2020-01-23
WO2019006107A1 (en) 2019-01-03
RU2019143627A3 (ru) 2022-04-07
CN110869031A (zh) 2020-03-06
JP2020528739A (ja) 2020-10-01
JP2023055906A (ja) 2023-04-18
US20200113955A1 (en) 2020-04-16
EP3645012A1 (en) 2020-05-06
EP3645012A4 (en) 2021-06-30

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