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公开(公告)号：US07998667B1
公开(公告)日：2011-08-16
申请号：US09856290
申请日：1999-11-18
申请人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
发明人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/16
摘要： The invention concerns nucleic acids coding for mutated or truncated forms of the human parkin gene, or forms comprising multiplication of exons, and the corresponding proteins and antibodies. The invention also concerns methods and kits for identifying mutations of the parkin gene, and for studying compounds for therapeutic purposes.
摘要翻译： 本发明涉及编码人parkin基因的突变形式或截短形式的核酸或包含外显子增殖的形式，以及相应的蛋白质和抗体。 本发明还涉及用于鉴定parkin基因突变的方法和试剂盒，并用于研究用于治疗目的的化合物。
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公开(公告)号：US08835618B2
公开(公告)日：2014-09-16
申请号：US13209495
申请日：2011-08-15
申请人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
发明人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
CPC分类号： C12Q1/6883 , C07K16/40 , C12N9/104 , C12N9/93 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Y603/02019
摘要： The invention concerns nucleic acids coding for mutated or truncated forms of the human parkin gene, or forms comprising multiplication of exons, and the corresponding proteins and antibodies. The invention also concerns methods and kits for identifying mutations of the parkin gene, and for studying compounds for therapeutic purposes.
摘要翻译： 本发明涉及编码人parkin基因的突变形式或截短形式的核酸或包含外显子增殖的形式，以及相应的蛋白质和抗体。 本发明还涉及用于鉴定parkin基因突变的方法和试剂盒，并用于研究用于治疗目的的化合物。
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3.发明申请DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY DETECTION OF A MUTATION IN THE KIAA1840 GENE OR PROTEIN 有权通过检测KIAA1840基因或蛋白质中的突变来诊断遗传性SPASTIC PARAPLEGIAS（HSP）公开(公告)号：US20130034849A1
公开(公告)日：2013-02-07
申请号：US13567790
申请日：2012-08-06
IPC分类号： C12Q1/68 , C07K16/18 , C07H21/04 , C07K14/47 , G01N33/566 , G01N33/577
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The invention relates to an ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein said mutation is indicative of an hereditary spastic paraplegias (HSP).
摘要翻译： 本发明涉及一种在受试者中诊断或预测遗传性痉挛性截瘫（HSP）的离体方法，该方法包括检测KIAA1840基因或蛋白质（空间蛋白）中的突变，其中所述突变指示遗传性痉挛性截瘫 （HSP）。
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公开(公告)号：US08273548B2
公开(公告)日：2012-09-25
申请号：US11390195
申请日：2006-03-28
申请人： Han Koutnikova , Alexis Brice , Alain Fournier , Laurent Pradier , Catherine Prades , Isabelle Arnould-Reguigne , Marie-Françoise Rosier-Montus , Olga Corti
发明人： Han Koutnikova , Alexis Brice , Alain Fournier , Laurent Pradier , Catherine Prades , Isabelle Arnould-Reguigne , Marie-Françoise Rosier-Montus , Olga Corti
CPC分类号： C07K14/47 , A01K2217/05 , A61K38/00 , A61K48/00 , C07K2319/00
摘要： The present invention relates to novel compounds and their uses, in particular their pharmaceutical or diagnostic uses or their use as pharmacological targets. More particularly, the present invention relates to a novel protein, referred to as PAP1, as well as to novel peptides and compounds which are capable of modulating, at least partially, the activity of parkin.
摘要翻译： 本发明涉及新化合物及其用途，特别是其药物或诊断用途或其作为药理学靶标的用途。 更具体地，本发明涉及一种称为PAP1的新型蛋白质，以及能够至少部分调节帕金蛋白酶活性的新型肽和化合物。
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公开(公告)号：US20120064598A1
公开(公告)日：2012-03-15
申请号：US13209495
申请日：2011-08-15
申请人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
发明人： Alexis Brice , Christophe Lucking , Patrice Denefle , Sylvain Ricard , Nacer Eddine Abbas , Sandrine Bouley
IPC分类号： C12N9/00 , C07K16/40 , C07H21/00 , C12N5/10 , C12N5/04 , C12N1/21 , C12N1/19 , C12N15/52 , C12N15/63
CPC分类号： C12Q1/6883 , C07K16/40 , C12N9/104 , C12N9/93 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Y603/02019
摘要： The invention concerns nucleic acids coding for mutated or truncated forms of the human parkin gene, or forms comprising multiplication of exons, and the corresponding proteins and antibodies. The invention also concerns methods and kits for identifying mutations of the parkin gene, and for studying compounds for therapeutic purposes.
摘要翻译： 本发明涉及编码人parkin基因的突变形式或截短形式的核酸或包含外显子增殖的形式，以及相应的蛋白质和抗体。 本发明还涉及用于鉴定parkin基因突变的方法和试剂盒，并用于研究用于治疗目的的化合物。
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6.发明授权Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein 有权通过检测KIAA1840基因或蛋白质中的突变来诊断遗传性痉挛性截瘫（HSP）公开(公告)号：US08728727B2
公开(公告)日：2014-05-20
申请号：US13567790
申请日：2012-08-06
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The invention relates to an ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein said mutation is indicative of an hereditary spastic paraplegias (HSP).
摘要翻译： 本发明涉及一种在受试者中诊断或预测遗传性痉挛性截瘫（HSP）的离体方法，该方法包括检测KIAA1840基因或蛋白质（空间蛋白）中的突变，其中所述突变指示遗传性痉挛性截瘫 （HSP）。
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7.发明申请DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY INDENTIFICATION OF A MUTATION IN THE KIAA1840 GENE OR PROTEIN 审中-公开通过对KIAA1840基因或蛋白质中的突变进行鉴定来诊断遗传性SPASTIC PARAPLEGIAS（HSP）公开(公告)号：US20110129819A1
公开(公告)日：2011-06-02
申请号：US12440644
申请日：2007-09-11
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The invention relates to an ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein said mutation is indicative of. an hereditary spastic paraplegias (HSP).
摘要翻译： 本发明涉及一种在受试者中诊断或预测遗传性痉挛性截瘫（HSP）的离体方法，该方法包括检测KIAA1840基因或蛋白质（空间蛋白）中的突变，其中所述突变指示。 遗传性痉挛性截瘫（HSP）。
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8.发明授权Method for determining the ability of a compound to modify the interaction between parkin and the p38 protein 有权确定化合物修饰parkin和p38蛋白之间相互作用的能力的方法公开(公告)号：US07070940B2
公开(公告)日：2006-07-04
申请号：US10622817
申请日：2003-07-18
申请人： Olga Corti , Cornelia Hampe , Alexis Brice , Laurent Pradier , Thomas Rooney , Alain Fournier
发明人： Olga Corti , Cornelia Hampe , Alexis Brice , Laurent Pradier , Thomas Rooney , Alain Fournier
CPC分类号： G01N33/6896 , A61K38/00 , C07K14/47
摘要： The present invention relates to a method for determining the ability of a compound to modify the interaction between parkin and the p38 protein, and in particular to a method for screening for or detecting compounds intended for the prevention and/or treatment of neurodegenerative pathological conditions. The present inventions also relates to compounds identified in the above screening method.
摘要翻译： 本发明涉及一种测定化合物修饰parkin和p38蛋白之间相互作用的能力的方法，特别涉及用于筛选或检测旨在预防和/或治疗神经变性病理状况的化合物的方法 。 本发明还涉及上述筛选方法鉴定的化合物。
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9.发明申请DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY IDENTIFICATION OF A MUTATION IN THE ZFYVE26 GENE OR PROTEIN 审中-公开通过鉴定ZFYVE26基因或蛋白质中的突变来诊断遗传性SPASTIC PARAPLEGIAS（HSP）公开(公告)号：US20110117558A1
公开(公告)日：2011-05-19
申请号：US12934841
申请日：2009-03-31
申请人： Giovanni Stevanin , Sylvain Hanein , Amir Boukhris , Cyril Goizet , Elodie Martin , Alexis Brice
发明人： Giovanni Stevanin , Sylvain Hanein , Amir Boukhris , Cyril Goizet , Elodie Martin , Alexis Brice
CPC分类号： C12Q1/6883 , C07H21/04 , C07K14/47 , C12Q2600/156 , G01N33/6893 , G01N2800/385
摘要： The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).
摘要翻译： 本发明涉及一种在受试者中诊断或预测遗传性痉挛性截瘫（HSP）的离体方法，该方法包括检测ZFYVE26基因或蛋白质（spastizin）中的突变，其中所述突变指示遗传性痉挛性截瘫 （HSP）。
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公开(公告)号：US20060287230A1
公开(公告)日：2006-12-21
申请号：US11390195
申请日：2006-03-28
申请人： Hana Koutnikova , Alexis Brice , Alain Fournier , Laurent Pradier , Catherine Prades , Isabelle Arnould-Reguigne , Marie-Francoise Rosier-Montus , Olga Corti
发明人： Hana Koutnikova , Alexis Brice , Alain Fournier , Laurent Pradier , Catherine Prades , Isabelle Arnould-Reguigne , Marie-Francoise Rosier-Montus , Olga Corti
IPC分类号： A61K38/17 , A61K39/395 , C07K14/705 , C07K16/28 , C07H21/04 , C12P21/06
CPC分类号： C07K14/47 , A01K2217/05 , A61K38/00 , A61K48/00 , C07K2319/00
摘要： The present invention relates to novel compounds and their uses, in particular their pharmaceutical or diagnostic uses or their use as pharmacological targets. More particularly, the present invention relates to a novel protein, referred to as PAP1, as well as to novel peptides and compounds which are capable of modulating, at least partially, the activity of parkin.
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