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公开(公告)号：US20120027745A1
公开(公告)日：2012-02-02
申请号：US13146869
申请日：2010-02-01
申请人： Maria Sol Rodriguez Pena , Harald Petry , Jaap Twisk , Sander Jan Hendrik Van Deventer , Eduardo Carlos Salido Ruiz , Armando Torres Ramirez
发明人： Maria Sol Rodriguez Pena , Harald Petry , Jaap Twisk , Sander Jan Hendrik Van Deventer , Eduardo Carlos Salido Ruiz , Armando Torres Ramirez
CPC分类号： A61K38/45 , C12N15/86 , C12N2750/14143 , C12N2750/14171
摘要： The present invention relates to an alanine glyoxylate aminotransferase (AGXT) I340M therapeutic for use as a medicament or in a method of treatment, for example in the treatment of an AGXT-responsive condition. The AGXT I340M therapeutic is an AGXT I340M protein comprising an amino acid sequence, which, when optimally aligned with SEQ ID NO: 2, comprises a methionine at a position corresponding to position 340 in SEQ ID NO: 2, a nucleic acid molecule encoding such an AGXT I340M protein, or a virion of a viral gene therapy vector comprising such a nucleic acid molecule. The AGXT I340M therapeutic has a higher specific activity as compared to other AGXT alleles and may therefore be advantageously used in the treatment of primary hyperoxaluria type I.
摘要翻译： 本发明涉及用作药物的丙氨酸乙醛酸氨基转移酶（AGXT）I340M治疗剂或用于例如治疗AGXT反应性病症的治疗方法。 AGXT I340M治疗剂是包含氨基酸序列的AGXT I340M蛋白质，当与SEQ ID NO：2最佳比对时，在对应于SEQ ID NO：2中的位置340的位置处包含甲硫氨酸，编码这样的核酸分子 AGXT I340M蛋白，或包含这种核酸分子的病毒基因治疗载体的病毒粒子。 与其他AGXT等位基因相比，AGXT I340M治疗剂具有更高的比活性，因此可有利地用于治疗I型原发性高硫酸尿症。
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公开(公告)号：US20110262399A1
公开(公告)日：2011-10-27
申请号：US13121532
申请日：2009-09-29
申请人： Antonio Fontanellas Romá , Gloria González Aseguinolaza , Maria Sol Rodriguez Pena , Maria Astrid Pañeda Rodriguez , Jaap Twisk , Jesús Maria Prieto Valtueña , Harald Petry , Sander Jan Hendrik Van Deventer
发明人： Antonio Fontanellas Romá , Gloria González Aseguinolaza , Maria Sol Rodriguez Pena , Maria Astrid Pañeda Rodriguez , Jaap Twisk , Jesús Maria Prieto Valtueña , Harald Petry , Sander Jan Hendrik Van Deventer
CPC分类号： C12N9/88 , A61K38/00 , A61K48/0058 , C12N2799/025 , C12Y205/01061
摘要： The present invention relates to nucleotide sequences coding for human porphobilinogen deaminase that are optimised for higher expression in mammalian cells. The invention further relates to DNA constructs comprising such optimised synthetic coding sequences for use in gene therapy of conditions caused by a deficiency in porphobilinogen deaminase, such as acute intermittent porphyria. Accordingly, the present invention relates to a nucleic acid or a nucleic acid construct comprising a nucleotide sequence coding for a human porphobilinogen deaminase, wherein at least 320 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 1 or wherein at least 305 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 3.
摘要翻译： 本发明涉及编码针对哺乳动物细胞中较高表达的人胆色素原脱氨酶的核苷酸序列。 本发明还涉及包含用于基因治疗由胆毒素原脱氨酶（例如急性间歇性卟啉症）缺乏引起的病症的优化的合成编码序列的DNA构建体。 因此，本发明涉及包含编码人胆色素原脱氨酶的核苷酸序列的核酸或核酸构建体，其中至少320个编码人胆色素原脱氨酶的密码子与SEQ ID NO：1中的密码子相同 或其中至少305个编码人胆色素原脱氨酶的密码子与SEQ ID NO：3中的密码子相同。
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公开(公告)号：US08697665B2
公开(公告)日：2014-04-15
申请号：US13121532
申请日：2009-09-29
申请人： Antonio Fontanellas Romá , Gloria González Aseguinolaza , Maria Sol Rodriguez Pena , Maria Astrid Pañeda Rodriguez , Jaap Twisk , Jesús Maria Prieto Valtueña , Harald Petry , Sander Jan Hendrik Van Deventer
发明人： Antonio Fontanellas Romá , Gloria González Aseguinolaza , Maria Sol Rodriguez Pena , Maria Astrid Pañeda Rodriguez , Jaap Twisk , Jesús Maria Prieto Valtueña , Harald Petry , Sander Jan Hendrik Van Deventer
CPC分类号： C12N9/88 , A61K38/00 , A61K48/0058 , C12N2799/025 , C12Y205/01061
摘要： The present invention relates to nucleotide sequences coding for human porphobilinogen deaminase that are optimised for higher expression in mammalian cells. The invention further relates to DNA constructs comprising such optimised synthetic coding sequences for use in gene therapy of conditions caused by a deficiency in porphobilinogen deaminase, such as acute intermittent porphyria. Accordingly, the present invention relates to a nucleic acid or a nucleic acid construct comprising a nucleotide sequence coding for a human porphobilinogen deaminase, wherein at least 320 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 1 or wherein at least 305 of the codons coding for the human porphobilinogen deaminase are identical to the codons in SEQ ID NO: 3.
摘要翻译： 本发明涉及编码针对哺乳动物细胞中更高表达的人胆色素原脱氨酶的核苷酸序列。 本发明还涉及包含用于基因治疗由胆毒素原脱氨酶（例如急性间歇性卟啉症）缺乏引起的病症的优化的合成编码序列的DNA构建体。 因此，本发明涉及包含编码人胆色素原脱氨酶的核苷酸序列的核酸或核酸构建体，其中至少320个编码人胆色素原脱氨酶的密码子与SEQ ID NO：1中的密码子相同 或其中至少305个编码人胆色素原脱氨酶的密码子与SEQ ID NO：3中的密码子相同。
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