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1. 发明申请

WO2012122042A2 PEPTIDE LINKERS FOR POLYPEPTIDE COMPOSITIONS AND METHODS FOR USING SAME 审中-公开
标题翻译：多肽组合物的肽链接及其使用方法
公开(公告)号：WO2012122042A2
公开(公告)日：2012-09-13
申请号：PCT/US2012/027561
申请日：2012-03-02
申请人： SHIRE HUMAN GENETIC THERAPIES, INC. , MARTINI, Paolo , CONCINO, Michael
发明人： MARTINI, Paolo , CONCINO, Michael
IPC分类号： A61K38/47 , C12N9/24 , A61P43/00
CPC分类号： C12N9/2402 , A61K9/0019 , A61K38/00 , A61K38/30 , A61K38/465 , A61K38/47 , A61K47/65 , C07K7/08 , C07K14/00 , C07K14/65 , C07K2319/01 , C07K2319/35 , C07K2319/74 , C12Y302/0105
摘要： Disclosed herein are novel peptide linkers and polypeptide compositions comprising the linkers (e.g., chimeric polypeptides) and methods of using the polypeptide compositions. The compositions and methods are particularly useful for targeting/delivering a polypeptide or protein of interest (e.g., a therapeutic polypeptide) to a cell, tissue or organ of interest in order to treat various diseases or disorders (e.g., lysosomal storage disorders).
摘要翻译：本文公开了包含接头（例如嵌合多肽）的新型肽接头和多肽组合物以及使用该多肽组合物的方法。为了治疗各种疾病或病症（例如溶酶体储存障碍），组合物和方法特别可用于靶向/递送感兴趣的多肽或蛋白质（例如，治疗性多肽）至感兴趣的细胞，组织或器官。

2. 发明申请

WO2012112681A1 METHODS FOR TREATING LYSOSOMAL ACID LIPASE DEFICIENCY 审中-公开
标题翻译：用于治疗肝硬脂酸缺乏症的方法
公开(公告)号：WO2012112681A1
公开(公告)日：2012-08-23
申请号：PCT/US2012/025239
申请日：2012-02-15
申请人： SHIRE HUMAN GENETIC THERAPIES, INC. , HEARTLEIN, Michael , CONCINO, Michael , MARTINI, Paolo , MEIYAPPAN, Muthuraman , CALIAS, Pericles , ROMASHKO, Alla , PESCATORE, Brian , CHARNAS, Lawrence , POWELL, Jan , FELICE, Brian , SAVIOLI, Nancy
发明人： HEARTLEIN, Michael , CONCINO, Michael , MARTINI, Paolo , MEIYAPPAN, Muthuraman , CALIAS, Pericles , ROMASHKO, Alla , PESCATORE, Brian , CHARNAS, Lawrence , POWELL, Jan , FELICE, Brian , SAVIOLI, Nancy
IPC分类号： A61K38/46
CPC分类号： A61K38/465
摘要： The present invention provides compositions and methods for effective treatment of a lysosomal acid lipase deficiency (LALD) disease, in particular, Wolman's disease and Cholesteryl Ester Storage Disease (CESD). Among other things, the present invention provides a method of treating developmental impairment or malnutrition in an individual suffering from a lysosomal acid lipase deficiency (LALD) disease, comprising administering to the individual a therapeutic effective amount of a lysosomal acid lipase.
摘要翻译：本发明提供了有效治疗溶酶体酸性脂肪酶缺乏症（LALD）疾病，特别是沃尔曼氏病和胆固醇酯储存疾病（CESD）的组合物和方法。除此之外，本发明提供了治疗患有溶酶体酸性脂肪酶缺乏症（LALD）疾病的个体的发育障碍或营养不良的方法，其包括向个体施用治疗有效量的溶酶体酸性脂肪酶。

3. 发明申请

WO2012112677A2 METHODS FOR TREATING LYSOSOMAL ACID LIPASE DEFICIENCY 审中-公开
标题翻译：用于治疗肝硬脂酸缺乏症的方法
公开(公告)号：WO2012112677A2
公开(公告)日：2012-08-23
申请号：PCT/US2012/025233
申请日：2012-02-15
申请人： CHILDREN'S HOSPITAL MEDICAL CENTER , GRABOWSKI, Gregory , DU, Hong , HEARTLEIN, Michael , CONCINO, Michael , MARTINI, Paolo , MEIYAPPAN, Muthuraman , ROMASHKO, Alla , PESCATORE, Brian , CHARNAS, Lawrence
发明人： GRABOWSKI, Gregory , DU, Hong , HEARTLEIN, Michael , CONCINO, Michael , MARTINI, Paolo , MEIYAPPAN, Muthuraman , ROMASHKO, Alla , PESCATORE, Brian , CHARNAS, Lawrence
IPC分类号： A61K38/46
CPC分类号： A61K38/465
摘要： The present invention provides compositions and methods for effective treatment of a lysosomal acid lipase deficiency (LALD) disease, in particular, Wolman's disease and Cholesteryl Ester Storage Disease (CESD). Among other things, the present invention provides a method of treating a lysosomal acid lipase deficiency (LALD) disease, including administering to an individual suffering from or susceptible to the LALD disease a therapeutic effective amount of a lysosomal acid lipase periodically at an administration interval such that lipid level in liver, spleen and/or small intestine is reduced by at least 20% as compared to an untreated control.
摘要翻译：本发明提供了有效治疗溶酶体酸性脂肪酶缺乏症（LALD）疾病，特别是沃尔曼氏病和胆固醇酯储存疾病（CESD）的组合物和方法。除此之外，本发明提供了一种治疗溶酶体酸性脂肪酶缺乏症（LALD）疾病的方法，包括以给药间隔给予患有或易感LALD疾病的个体治疗有效量的溶酶体酸脂肪酶，与未处理的对照相比，肝脏，脾脏和/或小肠中的脂质水平降低至少20％。

4. 发明申请

WO2022254269A1 SOFTWARE FOR CHARACTERISING A TWO-DIMENSIONAL IMAGE OBTAINED BY MEANS OF AN EXAMINATION THROUGH IMAGES 审中-公开
公开(公告)号：WO2022254269A1
公开(公告)日：2022-12-08
申请号：PCT/IB2022/054486
申请日：2022-05-13
申请人： TINAZZI MARTINI, Paolo , TINAZZI MARTINI, Matilde
发明人： TINAZZI MARTINI, Paolo , TINAZZI MARTINI, Matilde
IPC分类号： G06T7/11 , G06T11/40 , G06T11/60 , G16H15/00 , G16H30/40
摘要： A software is described for characterising a two-dimensional image (20) obtained by means of an examination through images, comprising a computer code (1) which, when executed by a computer (10), performs the following steps: the step (S1) of allowing the acquisition of the two-dimensional image (20), the step (S2) of identifying a contour (25,30,35,40,45,50,55,60,65,70,75,80) of at least one anatomical part illustrated in the two-dimensional image (20), the step (S3) of generating a two-dimensional image (90) of the contour (25,30,35,40,45,50,55,60,65,70,75,80), the step (S4) of displaying said two-dimensional image (90) of the contour (25,30,35,40,45,50,55,60,65,70,75,80), the step (S5) of making available an archive (95) of medical characteristics, each of which is associated with a respective character string, which provides a description of the medical characteristic, and with a respective distinctive colour, the step (S6) of displaying said archive of medical characteristics, the step (S7) of allowing the selection of a medical characteristic, the step (S8) of allowing the association of the medical characteristic to the contour (25,30,35,40,45,50,55,60,65,70,75,80) of the two-dimensional image (90), the step (S9) of filling the two-dimensional image (90) of the contour with the colour of the respective selected medical characteristic, filling with colour only the portion of said two-dimensional image that is within the contour (25,30,35,40,45,50,55,60,65,70,75,80), and the step (S10) of generating a report (R) containing a two-dimensional image (100) in which the contour is filled with the colour of the previously selected medical characteristic and which contains the character string associated with the previously selected medical characteristic.

5. 发明申请

WO2012122042A3 PEPTIDE LINKERS FOR POLYPEPTIDE COMPOSITIONS AND METHODS FOR USING SAME 审中-公开
标题翻译：多肽组合物的肽链接及其使用方法
公开(公告)号：WO2012122042A3
公开(公告)日：2014-03-13
申请号：PCT/US2012027561
申请日：2012-03-02
申请人： SHIRE HUMAN GENETIC THERAPIES , MARTINI PAOLO , CONCINO MICHAEL
发明人： MARTINI PAOLO , CONCINO MICHAEL
IPC分类号： C07K14/00 , C07H21/00
CPC分类号： C12N9/2402 , A61K9/0019 , A61K38/00 , A61K38/30 , A61K38/465 , A61K38/47 , A61K47/65 , C07K7/08 , C07K14/00 , C07K14/65 , C07K2319/01 , C07K2319/35 , C07K2319/74 , C12Y302/0105
摘要： Disclosed herein are novel peptide linkers and polypeptide compositions comprising the linkers (e.g., chimeric polypeptides) and methods of using the polypeptide compositions. The compositions and methods are particularly useful for targeting/delivering a polypeptide or protein of interest (e.g., a therapeutic polypeptide) to a cell, tissue or organ of interest in order to treat various diseases or disorders (e.g., lysosomal storage disorders).
摘要翻译：本文公开了包含接头（例如嵌合多肽）的新型肽接头和多肽组合物以及使用该多肽组合物的方法。为了治疗各种疾病或病症（例如，溶酶体贮积症），组合物和方法特别可用于靶向/递送感兴趣的多肽或蛋白质（例如，治疗性多肽）至感兴趣的细胞，组织或器官。

6. 发明申请

WO2011163652A3 TREATMENT OF SANFILIPPO SYNDROME TYPE B 审中-公开
标题翻译： SANFILIPPO综合征B型治疗
公开(公告)号：WO2011163652A3
公开(公告)日：2013-07-11
申请号：PCT/US2011041928
申请日：2011-06-25
申请人： SHIRE HUMAN GENETIC THERAPIES , CONCINO MICHAEL F , CALIAS PERICLES , PAN JING , HOLMES KEVIN , MARTINI PAOLO , ROMASHKO ALLA , MEIYAPPAN MUTHURAMAN , ZHANG BOHONG , ISKENDERIAN ANDREA , LUNDBERG DIANNA , NORTON ANGELA , STRACK-LOGUE BETTINA , HUANG YAN , ALESSANDRINI MARY , PFEIFER RICHARD
发明人： CONCINO MICHAEL F , CALIAS PERICLES , PAN JING , HOLMES KEVIN , MARTINI PAOLO , ROMASHKO ALLA , MEIYAPPAN MUTHURAMAN , ZHANG BOHONG , ISKENDERIAN ANDREA , LUNDBERG DIANNA , NORTON ANGELA , STRACK-LOGUE BETTINA , HUANG YAN , ALESSANDRINI MARY , PFEIFER RICHARD
IPC分类号： A61K38/47
CPC分类号： A61K9/0085 , A61K9/0019 , A61K9/19 , A61K38/465 , A61K47/02 , A61K47/26 , C12Y301/06013
摘要： Among other things, the present invention provides methods and compositions of treating Sanfilippo syndrome type B (Sanfilippo B) by, e.g., intrathecal (IT) administration of a Naglu protein. A suitable Naglu protein can be a recombinant, gene-activated or natural protein. In some embodiments, a suitable Naglu protein is a recombinant Naglu protein. In some embodiments, a recombinant Naglu protein is a fusion protein containing a Naglu domain and a lysosomal targeting moiety. In some embodiments, the lysosomal targeting domain is an IGF-II moiety.
摘要翻译：除此之外，本发明提供了通过例如鞘内（IT）施用Naglu蛋白来治疗Sanfilippo综合征B型（Sanfilippo B）的方法和组合物。合适的Naglu蛋白可以是重组的，基因激活的或天然的蛋白质。在一些实施方案中，合适的Naglu蛋白是重组Naglu蛋白。在一些实施方案中，重组Naglu蛋白是含有Naglu结构域和溶酶体靶向部分的融合蛋白。在一些实施方案中，溶酶体靶向结构域是IGF-II部分。

7. 发明申请

WO2012012461A2 MANNOSE RECEPTOR C TYPE 1 (MRC1) CODON OPTIMIZED CELL LINE AND USES THEREOF 审中-公开
标题翻译： MANNOSE受体C型1（MRC1）密码子优化细胞系及其应用
公开(公告)号：WO2012012461A2
公开(公告)日：2012-01-26
申请号：PCT/US2011/044577
申请日：2011-07-19
申请人： SHIRE HUMAN GENETIC THERAPIES, INC. , RUIZ, Juan , SELLOS-MOURA, Marcia , CONCINO, Michael, F. , PAN, Luying , MARTINI, Paolo , STRACK-LOGUE, Bettina , ALDERUCCI, Scott
发明人： RUIZ, Juan , SELLOS-MOURA, Marcia , CONCINO, Michael, F. , PAN, Luying , MARTINI, Paolo , STRACK-LOGUE, Bettina , ALDERUCCI, Scott
IPC分类号： A61K38/47
CPC分类号： G01N33/6854 , A61K38/47 , C07K14/705 , C12N9/2402 , C12Y302/01045 , G06F19/00 , G06Q50/22 , Y02A90/22 , Y02A90/26
摘要： Described herein are isolated nucleic acid molecules comprising nucleotide sequence encoding mannose receptor, C type 1 (MRCl) wherein the 5' region of the nucleotide sequence encoding MRCl is codon optimized; cells comprising such nucleic acid molecules; and methods of detecting antibody production, e.g., neutralizing antibody production, in a subject being treated for Gaucher disease using such cells.
摘要翻译：本文描述了分离的核酸分子，其包含编码甘露糖受体的核苷酸序列，C型1（MRC1），其中编码MRC1的核苷酸序列的5'区被密码子优化; 包含此类核酸分子的细胞; 以及在使用此类细胞治疗戈谢病的受试者中检测抗体产生（例如中和抗体产生）的方法。

8. 发明申请

WO2005058678A1 MAGNETIC WEDGE DEVICE APPLIED TO THE FIFTH WHEEL OF TRAILER OR SEMITRAILER VEHICLES 审中-公开
标题翻译：适用于拖拉机或半导体车辆第五轮的磁性楔形装置
公开(公告)号：WO2005058678A1
公开(公告)日：2005-06-30
申请号：PCT/IT2004/000707
申请日：2004-12-17
申请人： H.T.S. HYDRO TECH SYSTEMS S.R.L. , BIONDI, Armando , MARTINI, Paolo
发明人： BIONDI, Armando , MARTINI, Paolo
IPC分类号： B62D53/08
CPC分类号： B62D53/0871 , B62D53/08
摘要： A magnetic wedge device for application on the fifth wheel of the tractor of articulated vehicles, by means of incorporated permanent magnets, to provide the angular position of the fifth wheel respect to the axis of a semitrailer to one or more functional systems dependent on this angular position and in particular to the piloting of semitrailer axle steering systems, consists of a wedge-shaped body (10) with a flat upper surface (12) equipped with permanent magnets (13) that maintain the body in contact with the flat surface of the semitrailer, close to the coupling pin (14) of the fifth wheel (11), and two flat side surfaces (15) equipped with permanent magnets (16) that maintain the body in contact with the two inner surfaces (17) of th “V” shaped opening in the fifth wheel in a fully wedged condition. The device presents a reference or coupling point (P) on which the end of a mechanical, hydraulic, pneumatic or electronic device (D) is applied, providing mechanical, hydraulic, pneumatic or electronic piloting corresponding to the position of the coupling point P on the wedge which is in turn proportional to the angular position of the fifth wheel with respect to the axis of the semitrailer. Figure 1
摘要翻译：一种磁楔装置，用于通过结合的永久磁铁应用在铰接式车辆的拖拉机的第五轮上，以使第五轮相对于半挂车的轴线的角位置提供给依赖于该角度的一个或多个功能系统位置，特别是对于半拖车车轮转向系统的驾驶，由具有平坦的上表面（12）的楔形体（10）组成，该平坦的上表面（12）配备有永久磁体（13），该永久磁体保持主体与半挂车，靠近第五轮（11）的联接销（14），以及两个平坦的侧表面（15），其配备有永久磁铁（16），该永磁体使主体与第二轮的两个内表面（17）保持接触， V“形开口处于完全楔入的状态。该装置呈现参考或联接点（P），机械，液压，气动或电子装置（D）的端部应用于其上，提供对应于联接点P的位置的机械，液压，气动或电子引导该楔块又与第五轮相对于半挂车的轴线的角位置成正比。图1

9. 发明申请

WO2012012461A3 MANNOSE RECEPTOR C TYPE 1 (MRC1) CODON OPTIMIZED CELL LINE AND USES THEREOF 审中-公开
标题翻译： MANNOSE受体C型1（MRC1）编码细胞优化细胞系及其用途
公开(公告)号：WO2012012461A3
公开(公告)日：2012-04-26
申请号：PCT/US2011044577
申请日：2011-07-19
申请人： SHIRE HUMAN GENETIC THERAPIES , RUIZ JUAN , SELLOS-MOURA MARCIA , CONCINO MICHAEL F , PAN LUYING , MARTINI PAOLO , STRACK-LOGUE BETTINA , ALDERUCCI SCOTT
发明人： RUIZ JUAN , SELLOS-MOURA MARCIA , CONCINO MICHAEL F , PAN LUYING , MARTINI PAOLO , STRACK-LOGUE BETTINA , ALDERUCCI SCOTT
IPC分类号： A61K48/00
CPC分类号： G01N33/6854 , A61K38/47 , C07K14/705 , C12N9/2402 , C12Y302/01045 , G06Q50/22 , Y02A90/22 , Y02A90/26
摘要： Described herein are isolated nucleic acid molecules comprising nucleotide sequence encoding mannose receptor, C type 1 (MRCl) wherein the 5' region of the nucleotide sequence encoding MRCl is codon optimized; cells comprising such nucleic acid molecules; and methods of detecting antibody production, e.g., neutralizing antibody production, in a subject being treated for Gaucher disease using such cells.
摘要翻译：本文描述了包含编码甘露糖受体，C型1（MRCl）的核苷酸序列的分离的核酸分子，其中编码MRC1的核苷酸序列的5'区域被密码子优化; 包含这种核酸分子的细胞; 以及在使用这种细胞治疗戈谢病的对象中检测抗体产生的方法，例如中和抗体产生。

10. 发明申请

WO2011163652A2 TREATMENT OF SANFILIPPO SYNDROME TYPE B 审中-公开
标题翻译： SANFILIPPO综合征B型治疗
公开(公告)号：WO2011163652A2
公开(公告)日：2011-12-29
申请号：PCT/US2011/041928
申请日：2011-06-25
申请人： SHIRE HUMAN GENETIC THERAPIES, INC. , CONCINO, Michael, F. , CALIAS, Pericles , PAN, Jing , HOLMES, Kevin , MARTINI, Paolo , ROMASHKO, Alla , MEIYAPPAN, Muthuraman , ZHANG, Bohong , ISKENDERIAN, Andrea , LUNDBERG, Dianna , NORTON, Angela , STRACK-LOGUE, Bettina , YAN, Huang , ALESSANDRINI, Mary , PFEIFER, Richard
发明人： CONCINO, Michael, F. , CALIAS, Pericles , PAN, Jing , HOLMES, Kevin , MARTINI, Paolo , ROMASHKO, Alla , MEIYAPPAN, Muthuraman , ZHANG, Bohong , ISKENDERIAN, Andrea , LUNDBERG, Dianna , NORTON, Angela , STRACK-LOGUE, Bettina , YAN, Huang , ALESSANDRINI, Mary , PFEIFER, Richard
IPC分类号： A61K38/47 , A61P25/00 , A61P25/28
CPC分类号： A61K9/0085 , A61K9/0019 , A61K9/19 , A61K38/465 , A61K47/02 , A61K47/26 , C12Y301/06013
摘要： Among other things, the present invention provides methods and compositions of treating Sanfilippo syndrome type B (Sanfilippo B) by, e.g., intrathecal (IT) administration of a Naglu protein. A suitable Naglu protein can be a recombinant, gene-activated or natural protein. In some embodiments, a suitable Naglu protein is a recombinant Naglu protein. In some embodiments, a recombinant Naglu protein is a fusion protein containing a Naglu domain and a lysosomal targeting moiety. In some embodiments, the lysosomal targeting domain is an IGF-II moiety.
摘要翻译：除此之外，本发明提供了通过例如鞘内（IT）施用Naglu蛋白来治疗Sanfilippo综合征B型（Sanfilippo B）的方法和组合物。合适的Naglu蛋白可以是重组的，基因激活的或天然的蛋白质。在一些实施方案中，合适的Naglu蛋白是重组Naglu蛋白。在一些实施方案中，重组Naglu蛋白是含有Naglu结构域和溶酶体靶向部分的融合蛋白。在一些实施方案中，溶酶体靶向结构域是IGF-II部分。

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