CN108431216B - 经密码子优化的尺寸减小的atp7a cdna及用于治疗铜转运障碍的用途 - Google Patents

经密码子优化的尺寸减小的atp7a cdna及用于治疗铜转运障碍的用途 Download PDF

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CN108431216B
CN108431216B CN201680074686.6A CN201680074686A CN108431216B CN 108431216 B CN108431216 B CN 108431216B CN 201680074686 A CN201680074686 A CN 201680074686A CN 108431216 B CN108431216 B CN 108431216B
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copper
nucleic acid
vector
codon
virus
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CN108431216A (zh
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S·G·卡莱尔
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US Department of Health and Human Services
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    • 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
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    • C12N9/14—Hydrolases (3)
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    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K33/00—Medicinal preparations containing inorganic active ingredients
    • A61K33/24—Heavy metals; Compounds thereof
    • A61K33/34—Copper; Compounds thereof
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
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    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • 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
    • 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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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y306/00—Hydrolases acting on acid anhydrides (3.6)
    • C12Y306/03—Hydrolases acting on acid anhydrides (3.6) acting on acid anhydrides; catalysing transmembrane movement of substances (3.6.3)
    • C12Y306/03004—Cu2+-exporting ATPase (3.6.3.4)
    • C—CHEMISTRY; METALLURGY
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    • 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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CN201680074686.6A 2015-10-21 2016-10-21 经密码子优化的尺寸减小的atp7a cdna及用于治疗铜转运障碍的用途 Active CN108431216B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201562244594P 2015-10-21 2015-10-21
US62/244,594 2015-10-21
PCT/US2016/058124 WO2017070472A1 (en) 2015-10-21 2016-10-21 Codon-optimized reduced-size atp7a cdna and uses for treatment of copper transport disorders

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CN108431216A CN108431216A (zh) 2018-08-21
CN108431216B true CN108431216B (zh) 2022-08-05

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US (3) US10988778B2 (https=)
EP (1) EP3365438B1 (https=)
JP (2) JP6854286B2 (https=)
CN (1) CN108431216B (https=)
AU (1) AU2016341983B8 (https=)
DK (1) DK3365438T3 (https=)
ES (1) ES2879400T3 (https=)
HU (1) HUE054802T2 (https=)
PL (1) PL3365438T3 (https=)
PT (1) PT3365438T (https=)
WO (1) WO2017070472A1 (https=)

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Publication number Priority date Publication date Assignee Title
US20210290571A1 (en) * 2018-07-12 2021-09-23 The Texas A&M University System Compositions for the treatment of copper deficiency and methods of use
US20240139236A1 (en) * 2021-03-18 2024-05-02 Cyprium Therapeutics, Inc. Copper histidinate compositions and uses thereof

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2010042102A1 (en) * 2008-10-06 2010-04-15 The Government Of The United States Of America As Represented By The Secretary Of The Department Of Health And Human Services Identification of subjects likely to benefit from copper treatment

Family Cites Families (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1993017321A1 (en) 1992-02-25 1993-09-02 Unisearch Limited Electrothermal atomic absorption and preconcentration device
EP0606516B1 (en) 1993-01-13 1998-12-30 Idemitsu Kosan Company Limited Anti-human ceruloplasmin monoclonal antibody
US6759050B1 (en) 1998-12-03 2004-07-06 Avigen, Inc. Excipients for use in adeno-associated virus pharmaceutical formulations, and pharmaceutical formulations made therewith
US6812339B1 (en) * 2000-09-08 2004-11-02 Applera Corporation Polymorphisms in known genes associated with human disease, methods of detection and uses thereof
KR100459644B1 (ko) 2001-03-31 2004-12-03 제노백(주) 혈액 여과지에서의 효소면역측정법을 이용한셀룰로플라스민 농도 측정 방법 및 이 방법을 이용한윌슨병 스크리닝 검사용 키트와 진단 시약
US7261544B2 (en) 2003-05-21 2007-08-28 Genzyme Corporation Methods for producing preparations of recombinant AAV virions substantially free of empty capsids
US20070161120A1 (en) 2006-01-10 2007-07-12 Viorica Lopez-Avila Ceruloplasmin Assay
US8101727B2 (en) * 2006-03-30 2012-01-24 Novartis Ag Compositions and methods of use for antibodies of c-Met
EP2058401A1 (en) * 2007-10-05 2009-05-13 Genethon Widespread gene delivery to motor neurons using peripheral injection of AAV vectors
ES2751999T3 (es) 2008-01-29 2020-04-02 Applied Genetic Tech Corporation Producción recombinante de virus adeno-asociados usando células BHK en suspensión
WO2010071832A1 (en) * 2008-12-19 2010-06-24 Nationwide Children's Hospital Delivery of polynucleotides across the blood brain barrier using recombinant aav9
US9415121B2 (en) 2008-12-19 2016-08-16 Nationwide Children's Hospital Delivery of MECP2 polynucleotide using recombinant AAV9
WO2010114948A2 (en) 2009-04-02 2010-10-07 University Of Florida Research Foundation, Inc. An inducible system for highly efficient production of recombinant adeno-associated virus (raav) vectors
MX367100B (es) * 2012-02-17 2019-08-05 The Children´S Hospital Of Philadelphia Composiciones del vector aav y metodos para su transferencia genetica a celulas, organos y tejidos.
WO2013151665A2 (en) 2012-04-02 2013-10-10 modeRNA Therapeutics Modified polynucleotides for the production of proteins associated with human disease
CN104411338A (zh) * 2012-04-02 2015-03-11 现代治疗公司 用于产生与人类疾病相关的生物制剂和蛋白质的修饰多核苷酸

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2010042102A1 (en) * 2008-10-06 2010-04-15 The Government Of The United States Of America As Represented By The Secretary Of The Department Of Health And Human Services Identification of subjects likely to benefit from copper treatment

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
"197. Survival, Growth, and Neurobehavioral Outcomes in a Mouse Model of Menkes Disease With CSF-Directed AAV9 and Subcutaneous Copper Histidine";MarieReine Haddad，et al.;《Molecular Therapy》;20150531;第23卷;第1页 *
"ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model";Anthony Donsante, et al.;《Mol Ther》;20110830;第19卷(第12期);摘要，图2，材料和方法部分，讨论部分,引用文献2 *
"BC156437.1";Strausberg,R.L.,et al;《NCBI GenBank》;20080804;第1-2页 *
"Cu++-transporting P-type ATPase [Homo sapiens]，GenBank: AAA35580.1";Vulpe,C, et al.;《NCBI GenBank》;19930507;第1-2页 *
"Decoding mechanisms by which silent codon changes influence protein biogenesis and function";Vedrana Bali and Zsuzsanna Bebok;《Int J Biochem Cell Biol》;20150326;第64卷;摘要，第5节 *
"Expression of codon optimized genes in microbial systems current industrial applications and perspectives";Claudia Elena,et al;《Front Microbiol.》;20140204;全文 *

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Publication number Publication date
US12173306B2 (en) 2024-12-24
WO2017070472A1 (en) 2017-04-27
PL3365438T3 (pl) 2021-10-18
JP2021052796A (ja) 2021-04-08
HUE054802T2 (hu) 2021-09-28
US10988778B2 (en) 2021-04-27
US20210214751A1 (en) 2021-07-15
AU2016341983B8 (en) 2022-10-06
PT3365438T (pt) 2021-07-12
DK3365438T3 (da) 2021-07-12
JP2018533941A (ja) 2018-11-22
CN108431216A (zh) 2018-08-21
US20250129382A1 (en) 2025-04-24
EP3365438A1 (en) 2018-08-29
ES2879400T3 (es) 2021-11-22
JP6854286B2 (ja) 2021-04-07
US20180312871A1 (en) 2018-11-01
AU2016341983A8 (en) 2022-10-06
AU2016341983B2 (en) 2022-05-26
EP3365438B1 (en) 2021-04-28
CA3001574A1 (en) 2017-04-27
AU2016341983A1 (en) 2018-04-26

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