公开(公告)号：US20160376608A1

公开(公告)日：2016-12-29

申请号：US15038979

申请日：2014-11-25

申请人： THE U.S.A., AS REPRESENTED BY THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES ,  UNIVERSITY OF FLORIDA RESEARCH FOUNDATION INCORPORATED

发明人： Janice J. Chou ,  Barry J. Byrne

IPC分类号： C12N15/86 ,  C12N9/16 ,  A61K48/00 ,  C12N7/00

CPC分类号： C12N15/86 ,  A61K48/0008 ,  A61K48/005 ,  A61K48/0066 ,  A61K48/0075 ,  C12N7/00 ,  C12N9/16 ,  C12N2750/14143 ,  C12N2830/008 ,  C12N2830/42 ,  C12Y301/03009

摘要： The present disclosure describes improved adeno-associated virus (AAV) vectors for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia). Described are recombinant nucleic acid molecules, vectors and recombinant AAV that include a G6PC promoter/enhancer, a synthetic intron, a G6PC coding sequence (such as a wild-type or codon-optimized G6PC coding sequence), and stuffer nucleic acid sequence situated between the G6PC promoter/enhancer and the intron, as well as between the intron and the G6PC coding sequence. The recombinant AAVs disclosed herein exhibit highly efficient liver transduction and are capable of correcting metabolic abnormalities in an animal model of GSD-Ia.

摘要翻译： 本公开描述了改进的腺相关病毒（AAV）载体用于治疗糖原储存疾病，特别是Ia型糖原贮积病（GSD-1a）的基因治疗应用。 描述了包括G6PC启动子/增强子，合成内含子，G6PC编码序列（例如野生型或密码子优化的G6PC编码序列）的重组核酸分子，载体和重组AAV，以及位于 G6PC启动子/增强子和内含子，以及内含子和G6PC编码序列之间。 本文公开的重组AAV表现出高效的肝转导，并且能够校正GSD-1a的动物模型中的代谢异常。

公开(公告)号：US20230203534A1

公开(公告)日：2023-06-29

申请号：US17926709

申请日：2021-05-21

申请人： GENETHON ,  INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) ,  UNIVERSITE D'EVRY VAL D'ESSONNE ,  UNIVERSITE CLAUDE BERNARD LYON 1

发明人： Louisa JAUZE ,  Fabienne RAJAS ,  Giuseppe RONZITTI

IPC分类号： C12N15/86 ,  C07K14/81 ,  C12N9/16

CPC分类号： C12N15/86 ,  C07K14/8125 ,  C12N9/16 ,  C12Y301/03009 ,  C12N2750/14143 ,  C12N2750/14171

摘要： The invention relates to an adeno-associated virus (AAV) vector comprising a nucleic acid construct for the expression of a glucose-6-phosphatase-a (G6Pase-a) in a cell, the construct comprising a nucleic acid sequence encoding the G6Pase-a, wherein the nucleic acid sequence encoding the G6Pase-a is operably linked to a human alpha-1 antitrypsin (hAAT) promoter, a cell transformed with the vector of the invention, a composition comprising the vector or the cell of the invention, and the use thereof.

公开(公告)号：US20170362670A1

公开(公告)日：2017-12-21

申请号：US15538852

申请日：2015-12-22

申请人： The U.S.A., as represented by the Secretary, Department of Health and Human Services

发明人： Janice J. Chou

IPC分类号： C12N9/16 ,  C12N15/66 ,  A61K38/47 ,  A61K45/06

CPC分类号： C12N15/66 ,  A61K38/00 ,  A61K38/47 ,  A61K45/06 ,  C12N9/16 ,  C12N15/85 ,  C12Y301/03009 ,  C12Y302/00

摘要： Modified G6PC (glucose-6-phosphatase, catalytic subunit) nucleic acids and glucose-6-phosphatase-α (G6Pase-α) enzymes with increased phosphohydrolase activity are described. Also described are vectors, such as adeno-associated virus (AAV) vectors, and recombinant AAV expressing modified G6Pase-α. The disclosed AAV vectors and rAAV can be used for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia), and complications thereof.

公开(公告)号：US09181566B2

公开(公告)日：2015-11-10

申请号：US13730742

申请日：2012-12-28

申请人： BUTAMAX(TM) ADVANCED BIOFUELS LLC

发明人： Michael Dauner ,  Arthur Leo Kruckeberg ,  Robert A Larossa ,  Brian James Paul ,  Wonchul Suh ,  Joseph Frederich Tuminello

IPC分类号： C12P7/26 ,  C12P7/16

CPC分类号： C12P7/16 ,  C12P7/26 ,  C12Y101/01001 ,  C12Y101/01008 ,  C12Y101/01043 ,  C12Y101/01047 ,  C12Y101/01086 ,  C12Y202/01006 ,  C12Y203/01008 ,  C12Y301/01031 ,  C12Y301/03009 ,  C12Y401/02009 ,  Y02E50/10

摘要： The invention relates to suitable screening strategies for evaluating various candidate promoters for differential gene expression during the propagation and production phases of a fermentation process. The invention also relates to recombinant host cells that comprise identified promoter nucleic acid sequences and methods for producing fermentation products employing the same.

摘要翻译： 本发明涉及用于评估在发酵过程的繁殖和生产阶段期间差异基因表达的各种候选启动子的合适的筛选策略。 本发明还涉及包含鉴定的启动子核酸序列的重组宿主细胞和使用其的发酵产物的生产方法。

公开(公告)号：US11866727B2

公开(公告)日：2024-01-09

申请号：US15759202

申请日：2016-11-07

申请人： CRISPR THERAPEUTICS AG

发明人： Chad Albert Cowan ,  Roman Lvovitch Bogorad ,  Ante Sven Lundberg ,  Kirsten Leah Beaudry

IPC分类号： C12N9/22 ,  C12N15/90 ,  C12N9/16 ,  C12N15/11 ,  A61K38/00

CPC分类号： C12N15/907 ,  C12N9/16 ,  C12N9/22 ,  C12N15/11 ,  C12Y301/03009 ,  A61K38/00 ,  C12N2310/20 ,  C12N2800/80

摘要： The present application provides materials and methods for treating a patient with Glycogen Storage Disease type 1a (GSD1a) both ex vivo and in vivo. In addition, the present application provides materials and methods for modulating the expression, function, and/or activity of the glucose-6-phosphatase, catalytic (G6PC) and/or the glucose-6-phosphatase (G6Pase) protein in a cell by genome editing.

公开(公告)号：US20230144834A1

公开(公告)日：2023-05-11

申请号：US18058457

申请日：2022-11-23

申请人： The U.S.A., as represented by the Secretary, Department of Health and Human Services

发明人： Janice J. Chou

IPC分类号： C12N15/864 ,  C12N15/85 ,  C12N9/16 ,  A61K38/00 ,  A61K48/00 ,  A61K38/47 ,  C12N15/66

CPC分类号： C12N15/8645 ,  C12N15/85 ,  C12N9/16 ,  A61K38/00 ,  A61K48/00 ,  C12Y301/03009 ,  A61K38/47 ,  C12N15/66 ,  A61K45/06

摘要： Modified G6PC (glucose-6-phosphatase, catalytic subunit) nucleic acids and glucose-6-phosphatase-α (G6Pase-α) enzymes with increased phosphohydrolase activity are described. Also described are vectors, such as adeno-associated virus (AAV) vectors, and recombinant AAV expressing modified G6Pase-α. The disclosed AAV vectors and rAAV can be used for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia), and complications thereof.

公开(公告)号：US20170233763A1

公开(公告)日：2017-08-17

申请号：US15493622

申请日：2017-04-21

申请人： The U.S.A., as represented by the Secretary, Department of Health and Human Services

发明人： Janice J. Chou

IPC分类号： C12N15/86 ,  A61K48/00 ,  C12N9/16 ,  C12N7/00

CPC分类号： C12N15/86 ,  A61K48/0008 ,  A61K48/005 ,  A61K48/0066 ,  A61K48/0075 ,  C12N7/00 ,  C12N9/16 ,  C12N2750/14143 ,  C12N2830/008 ,  C12N2830/42 ,  C12Y301/03009

摘要： The present disclosure describes improved adeno-associated virus (AAV) vectors for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia). Described are recombinant nucleic acid molecules, vectors and recombinant AAV that include a G6PC promoter/enhancer, a synthetic intron, a G6PC coding sequence (such as a wild-type or codon-optimized G6PC coding sequence), and stuffer nucleic acid sequence situated between the G6PC promoter/enhancer and the intron, as well as between the intron and the G6PC coding sequence. The recombinant AAVs disclosed herein exhibit highly efficient liver transduction and are capable of correcting metabolic abnormalities in an animal model of GSD-Ia.

公开(公告)号：US20240197846A1

公开(公告)日：2024-06-20

申请号：US18287739

申请日：2022-04-20

申请人： Cue Biopharma, Inc.

发明人： Ronald D. SEIDEL, III ,  John F. ROSS ,  Chee Meng LOW

IPC分类号： A61K39/00 ,  C07K14/47 ,  C07K14/495 ,  C07K14/525 ,  C07K14/55 ,  C07K14/62 ,  C07K14/705 ,  C07K14/74 ,  C12N9/16 ,  C12N9/88

CPC分类号： A61K39/0008 ,  C07K14/47 ,  C07K14/495 ,  C07K14/525 ,  C07K14/55 ,  C07K14/62 ,  C07K14/70532 ,  C07K14/70539 ,  C12N9/16 ,  C12N9/88 ,  C12Y301/03009 ,  C12Y301/03048 ,  C12Y401/01015

摘要： The present disclosure provides antigen presenting polypeptide comprising a TGF-β MOD that is reversibly masked and acts as a TGF-β receptor agonist. The antigen presenting polypeptides comprising one or more chemical conjugation sites for incorporation of, for example, Type 1 Diabetes (T1D) associated epitope containing polypeptides. The antigen-presenting polypeptides and their T1D-associated epitope conjugates are useful for modulating the activity of a T-cell, and accordingly, the present disclosure provides methods of modulating activity of a T-cell in vitro and in vivo as a method of treatment of T1D.

公开(公告)号：US11963974B2

公开(公告)日：2024-04-23

申请号：US16491435

申请日：2018-03-09

申请人： NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT ,  HIROSHIMA UNIVERSITY ,  DAIICHI SANKYO COMPANY, LIMITED

发明人： Go Tajima ,  Satoshi Okada ,  Miyuki Tsumura

IPC分类号： C12N15/11 ,  A61K31/7088 ,  A61K48/00 ,  A61P3/08 ,  C12N15/113

CPC分类号： A61K31/7088 ,  A61K48/00 ,  A61P3/08 ,  C12N15/113 ,  C12Y301/03009 ,  C12N2310/11 ,  C12N2310/3231 ,  C12N2310/3233 ,  C12N2320/33

摘要： The present invention provides a novel antisense oligonucleotide and a composition for preventing or treating glycogen storage disease type Ia. The present invention provides an antisense oligonucleotide which hybridizes with a pre-mRNA sequence derived from a region including at least one of a base at position 42911000, a base at position 42911004, and a base at position 42911005 in a base sequence of human chromosome 17 of GRCh38/hg38 and has activity to inhibit aberrant splicing of pre-mRNA of c.648G>T variant G6PC.

公开(公告)号：US20110286977A1

公开(公告)日：2011-11-24

申请号：US13119030

申请日：2009-09-30

申请人： Bart Roep ,  Jacob Hald ,  Ole Dragsbaek Madsen

发明人： Bart Roep ,  Jacob Hald ,  Ole Dragsbaek Madsen

IPC分类号： A61K35/39 ,  A61P3/10 ,  C12N9/16 ,  C07K16/40 ,  G01N33/573 ,  C12N5/071

CPC分类号： C12N9/16 ,  A61K35/12 ,  C07K14/4713 ,  C07K16/40 ,  C12Y301/03009

摘要： The invention relates to G6PC2-encoded beta cell surface markers, methods of identifying and obtaining a culture cells comprising fully differentiated beta cells. Also contemplated is a method of sorting such cells, isolated cells and compositions thereof.

摘要翻译： 本发明涉及G6PC2编码的β细胞表面标志物，鉴定和获得包含完全分化的β细胞的培养细胞的方法。 还考虑了分类这样的细胞，分离的细胞及其组合物的方法。