BR112019004782A2 - variantes de alfa-glicosidase ácida e usos das mesmas - Google Patents

variantes de alfa-glicosidase ácida e usos das mesmas

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Publication number
BR112019004782A2
BR112019004782A2 BR112019004782A BR112019004782A BR112019004782A2 BR 112019004782 A2 BR112019004782 A2 BR 112019004782A2 BR 112019004782 A BR112019004782 A BR 112019004782A BR 112019004782 A BR112019004782 A BR 112019004782A BR 112019004782 A2 BR112019004782 A2 BR 112019004782A2
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BR
Brazil
Prior art keywords
variants
glycosidase
acid alpha
alpha
acid
Prior art date
Application number
BR112019004782A
Other languages
English (en)
Inventor
D Koeberl Dwight
Mingozzi Federico
Ronzitti Giuseppe
Han Sang-Oh
Original Assignee
Univ Duke
Genethon
Univ Sorbonne
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Univ Duke, Genethon, Univ Sorbonne filed Critical Univ Duke
Publication of BR112019004782A2 publication Critical patent/BR112019004782A2/pt

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    • 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)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405—Glucanases
    • C12N9/2408—Glucanases acting on alpha -1,4-glucosidic bonds
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/47—Hydrolases (3) acting on glycosyl compounds (3.2), e.g. cellulases, lactases
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00—Drugs for disorders of the muscular or neuromuscular system
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • A61P3/08—Drugs for disorders of the metabolism for glucose homeostasis
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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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    • C12N5/00—Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
    • C12N5/06—Animal cells or tissues; Human cells or tissues
    • C12N5/0602—Vertebrate cells
    • C12N5/0652—Cells of skeletal and connective tissues; Mesenchyme
    • C12N5/0658—Skeletal muscle cells, e.g. myocytes, myotubes, myoblasts
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N5/00—Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
    • C12N5/06—Animal cells or tissues; Human cells or tissues
    • C12N5/0602—Vertebrate cells
    • C12N5/067—Hepatocytes
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405—Glucanases
    • C12N9/2408—Glucanases acting on alpha -1,4-glucosidic bonds
    • C12N9/2411—Amylases
    • C12N9/2428—Glucan 1,4-alpha-glucosidase (3.2.1.3), i.e. glucoamylase
    • 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
    • C12N9/14—Hydrolases (3)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405—Glucanases
    • C12N9/2451—Glucanases acting on alpha-1,6-glucosidic bonds
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y302/00—Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
    • C12Y302/01—Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
    • C12Y302/0102—Alpha-glucosidase (3.2.1.20)
    • 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
    • C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/036—Fusion polypeptide containing a localisation/targetting motif targeting to the medium outside of the cell, e.g. type III secretion
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    • 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
    • C12N2750/14132—Use of virus as therapeutic agent, other than vaccine, e.g. as cytolytic agent
    • 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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Molecular Biology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Diabetes (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Hematology (AREA)
  • Obesity (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Plant Pathology (AREA)
  • Immunology (AREA)
  • Virology (AREA)
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  • Epidemiology (AREA)
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  • Neurology (AREA)
  • Emergency Medicine (AREA)
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  • Cell Biology (AREA)

Abstract

a presente invenção se refere a variantes de alfa-glicosidase ácida e usos das mesmas. as ditas variantes são otimizadas por sequência e/ou são ligadas a um peptídeo de sinal heterogêneo.
BR112019004782A 2016-09-12 2017-09-12 variantes de alfa-glicosidase ácida e usos das mesmas BR112019004782A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP16306148.4A EP3293259A1 (en) 2016-09-12 2016-09-12 Acid-alpha glucosidase variants and uses thereof
PCT/EP2017/072942 WO2018046772A1 (en) 2016-09-12 2017-09-12 Acid-alpha glucosidase variants and uses thereof

Publications (1)

Publication Number Publication Date
BR112019004782A2 true BR112019004782A2 (pt) 2019-06-04

Family

ID=56990393

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112019004782A BR112019004782A2 (pt) 2016-09-12 2017-09-12 variantes de alfa-glicosidase ácida e usos das mesmas

Country Status (9)

Country Link
US (2) US11421211B2 (pt)
EP (2) EP3293259A1 (pt)
JP (2) JP7208133B2 (pt)
CN (2) CN109790528B (pt)
AU (1) AU2017322374B2 (pt)
BR (1) BR112019004782A2 (pt)
CA (1) CA3035859A1 (pt)
MX (1) MX2019002843A (pt)
WO (1) WO2018046772A1 (pt)

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BR112019025888A2 (pt) 2017-06-07 2020-06-30 Regeneron Pharmaceuticals, Inc. polinucleotídeo que codifica uma proteína terapêutica multidomínio, vetor de terapia gênica, proteína terapêutica multidomínio recombinante, método de expressão, métodos para reduzir o acúmulo de glicogênio em um tecido em um paciente em necessidade, para reduzir o acúmulo de glicogênio em um tecido em um paciente em necessidade epara tratar a deficiência enzimática em um paciente em necessidade e/ou tolerar o paciente à enzima para a qual é deficiente, anticorpo anti-cd63 ou fragmento de ligação a antígeno, e, composição farmacêutica
EP3648776A4 (en) * 2017-07-06 2021-04-07 The Medical College of Wisconsin, Inc. NEW IN VITRO AND IN VIVO ENRICHMENT STRATEGY TARGETING CHS-DERIVED LYMPHOCYTES TRANSDUCED BY A VECTOR FOR THE THERAPY OF DISORDERS
CN112334489A (zh) * 2018-05-16 2021-02-05 星火治疗有限公司 密码子优化的酸性α-葡萄糖苷酶表达盒及其使用方法
WO2020208032A1 (en) 2019-04-08 2020-10-15 Genethon Hybrid promoters for muscle expression
KR20220008280A (ko) * 2019-04-30 2022-01-20 더 트러스티스 오브 더 유니버시티 오브 펜실베니아 폼페병의 치료에 유용한 조성물
WO2021078833A1 (en) 2019-10-22 2021-04-29 Genethon Chimeric polypeptides and uses thereof
WO2021078834A1 (en) * 2019-10-22 2021-04-29 Genethon Chimeric acid-alpha glucosidase polypeptides and uses thereof
CN112852881B (zh) * 2021-02-09 2023-08-15 南京贝思奥生物科技有限公司 利用细胞穿膜肽增强腺相关病毒在中枢神经系统转导效率的方法
CN117897492A (zh) 2021-08-04 2024-04-16 吉尼松公司 用于肌肉和cns中的基因表达的杂合启动子
WO2023164060A2 (en) * 2022-02-25 2023-08-31 Asklepios Biopharmaceutical, Inc. Therapeutic adeno-associated virus for treating pompe disease with long term cessation of gaa enzyme replacement therapy
TW202403048A (zh) * 2022-03-18 2024-01-16 美商艾司科皮歐斯生物製藥有限公司 用於治療龐貝症之具有訊號肽修飾之以密碼子最佳化核酸編碼α-葡萄糖苷酶(GAA)之治療性腺相關病毒

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EP3293203A1 (en) 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof

Also Published As

Publication number Publication date
MX2019002843A (es) 2019-08-29
AU2017322374B2 (en) 2024-02-22
JP2019533992A (ja) 2019-11-28
EP3510150A1 (en) 2019-07-17
AU2017322374A1 (en) 2019-03-28
CN116732069A (zh) 2023-09-12
JP7208133B2 (ja) 2023-01-18
CN109790528B (zh) 2024-02-09
WO2018046772A1 (en) 2018-03-15
US20220389399A1 (en) 2022-12-08
EP3293259A1 (en) 2018-03-14
CN109790528A (zh) 2019-05-21
US20190390184A1 (en) 2019-12-26
US11421211B2 (en) 2022-08-23
JP2022177109A (ja) 2022-11-30
CA3035859A1 (en) 2018-03-15

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