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1. 发明授权

US07670773B2 MECP2E1 gene 有权
公开(公告)号：US07670773B2
公开(公告)日：2010-03-02
申请号：US11352153
申请日：2006-02-09
申请人： Berge A. Minassian , John B. Vincent
发明人： Berge A. Minassian , John B. Vincent
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A61K38/00 , A61K48/00 , C07K14/47 , C12Q2600/156 , C12Q2600/158 , G01N33/6896 , G01N2500/00 , G01N2800/28
摘要： The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.

2. 发明申请

US20090098565A1 MeCP2E1 gene 有权
标题翻译： MeCP2E1基因
公开(公告)号：US20090098565A1
公开(公告)日：2009-04-16
申请号：US12313251
申请日：2008-11-18
申请人： Berge A. Minassian , John B. Vincent
发明人： Berge A. Minassian , John B. Vincent
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A61K38/00 , A61K48/00 , C07K14/47 , C12Q2600/156 , C12Q2600/158 , G01N33/6896 , G01N2500/00 , G01N2800/28
摘要： The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.
摘要翻译：本发明是一种新型的MECP2E1剪接变体及其相应的多肽。本发明还包括在神经精神障碍或发育障碍的医学诊断和治疗中使用这些核酸序列和蛋白质的方法。

3. 发明授权

US08637236B2 MECP2E1 gene 有权
标题翻译： MECP2E1基因
公开(公告)号：US08637236B2
公开(公告)日：2014-01-28
申请号：US12657559
申请日：2010-01-21
申请人： Berge A. Minassian , John B. Vincent
发明人： Berge A. Minassian , John B. Vincent
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A61K38/00 , A61K38/1709 , A61K48/00 , C07K14/47 , C12Q2600/156 , G01N33/6896 , G01N2500/00 , G01N2800/28
摘要： The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.
摘要翻译：本发明是一种新型的MECP2E1剪接变体及其相应的多肽。本发明还包括在神经精神障碍或发育障碍的医学诊断和治疗中使用这些核酸序列和蛋白质的方法。

4. 发明授权

US09568484B2 MECP2E1 gene 有权
标题翻译： MECP2E1基因
公开(公告)号：US09568484B2
公开(公告)日：2017-02-14
申请号：US12313251
申请日：2008-11-18
申请人： Berge A. Minassian , John B. Vincent
发明人： Berge A. Minassian , John B. Vincent
IPC分类号： C12Q1/68 , G01N33/68 , C07K14/47 , A61K38/00 , A61K48/00
CPC分类号： C12Q1/6883 , A61K38/00 , A61K48/00 , C07K14/47 , C12Q2600/156 , C12Q2600/158 , G01N33/6896 , G01N2500/00 , G01N2800/28
摘要： The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.
摘要翻译：本发明是一种新型的MECP2E1剪接变体及其相应的多肽。本发明还包括在神经精神障碍或发育障碍的医学诊断和治疗中使用这些核酸序列和蛋白质的方法。

5. 发明申请

US20100203526A1 MECP2E1 gene 有权
标题翻译： MECP2E1基因
公开(公告)号：US20100203526A1
公开(公告)日：2010-08-12
申请号：US12657559
申请日：2010-01-21
申请人： Berge A. Minassian , John B. Vincent
发明人： Berge A. Minassian , John B. Vincent
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , A61K38/00 , A61K38/1709 , A61K48/00 , C07K14/47 , C12Q2600/156 , G01N33/6896 , G01N2500/00 , G01N2800/28
摘要： The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.
摘要翻译：本发明是一种新型的MECP2E1剪接变体及其相应的多肽。本发明还包括在神经精神障碍或发育障碍的医学诊断和治疗中使用这些核酸序列和蛋白质的方法。

6. 发明申请

US20090311704A1 COMPOSITIONS AND METHODS FOR DIAGNOSIS OF AUTOPHAGIC VACUOLAR MYOPATHY 失效
标题翻译：用于诊断自体VACUOLAR MYOPATHY的组合物和方法
公开(公告)号：US20090311704A1
公开(公告)日：2009-12-17
申请号：US12477555
申请日：2009-06-03
申请人： Berge A. Minassian
发明人： Berge A. Minassian
IPC分类号： C12Q1/68 , C07H21/04 , C12N5/10
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158
摘要： Transmembrane V-ATPase proton pump complexes regulate pH of extracellular space or intracellular compartments of cells. V-ATPase complexes are ubiquitous in cells across species. A human orthologue of yeast vma21, LOC203547 (VMA21), is likely involved in the assembly of the V-ATPase. Hypomorphic mutations of VMA21 are identified from XMEA patients. Methods to diagnose and/or distinguish between different forms of vacuolar or vacuolated myopathy in an individual or patient are provided based either on the sequence of the VMA21 gene and/or the level and/or activity of the V-ATPase complex. Compositions of the present invention may comprise DNA, RNA, or protein molecules corresponding to all or a portion of VMA21 and including one or more of the mutations in VMA21 identified. Cultured cells or cell lines having one or more mutations in the VMA21 gene derived from patients having a form of vacuolar or vacuolated myopathy are provided.
摘要翻译：跨膜V-ATP酶质子泵复合物调节细胞的胞外空间或细胞内室的pH。 V-ATPase复合物在各种细胞中都是普遍存在的。酵母vma21的人直向同源物，LOC203547（VMA21）可能参与V-ATP酶的组装。从XMEA患者中鉴定出VMA21的异型突变。基于VMA21基因的序列和/或V-ATPase复合物的水平和/或活性来提供诊断和/或区分个体或患者的液泡或空泡状肌病的不同形式的方法。本发明的组合物可以包含对应于VMA21的全部或部分的DNA，RNA或蛋白质分子，并且包括鉴定的VMA21中的一个或多个突变。提供了在具有液泡或空泡状肌病形式的患者中衍生的VMA21基因中具有一个或多个突变的培养细胞或细胞系。

7. 发明授权

US08486624B2 Lafora's disease gene 有权
公开(公告)号：US08486624B2
公开(公告)日：2013-07-16
申请号：US11979262
申请日：2007-10-31
申请人： Stephen W. Scherer , Berge A. Minassian , Antonio Delgado-Escueta , Guy Rouleu
发明人： Stephen W. Scherer , Berge A. Minassian , Antonio Delgado-Escueta , Guy Rouleu
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q2600/156 , C12Q2600/172
摘要： A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.

8. 发明授权

US08349557B2 Compositions and methods for diagnosis of autophagic vacuolar myopathy 失效
标题翻译：用于诊断自噬性液泡肌病的组合物和方法
公开(公告)号：US08349557B2
公开(公告)日：2013-01-08
申请号：US12477555
申请日：2009-06-03
申请人： Berge A. Minassian
发明人： Berge A. Minassian
IPC分类号： C07H21/04 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158
摘要： Transmembrane V-ATPase proton pump complexes regulate pH of extracellular space or intracellular compartments of cells. V-ATPase complexes are ubiquitous in cells across species. A human orthologue of yeast vma21, LOC203547 (VMA21), is likely involved in the assembly of the V-ATPase. Hypomorphic mutations of VMA21 are identified from XMEA patients. Methods to diagnose and/or distinguish between different forms of vacuolar or vacuolated myopathy in an individual or patient are provided based either on the sequence of the VMA21 gene and/or the level and/or activity of the V-ATPase complex. Compositions of the present invention may comprise DNA, RNA, or protein molecules corresponding to all or a portion of VMA21 and including one or more of the mutations in VMA21 identified. Cultured cells or cell lines having one or more mutations in the VMA21 gene derived from patients having a form of vacuolar or vacuolated myopathy are provided.
摘要翻译：跨膜V-ATP酶质子泵复合物调节细胞的胞外空间或细胞内室的pH。 V-ATPase复合物在各种细胞中都是普遍存在的。酵母vma21的人直向同源物，LOC203547（VMA21）可能参与V-ATP酶的组装。从XMEA患者中鉴定出VMA21的异型突变。基于VMA21基因的序列和/或V-ATPase复合物的水平和/或活性来提供诊断和/或区分个体或患者的液泡或空泡状肌病的不同形式的方法。本发明的组合物可以包含对应于VMA21的全部或部分的DNA，RNA或蛋白质分子，并且包括鉴定的VMA21中的一个或多个突变。提供了在具有液泡或空泡状肌病形式的患者中衍生的VMA21基因中具有一个或多个突变的培养细胞或细胞系。

9. 发明申请

US20100009346A1 Lafora's disease gene 有权
标题翻译：拉菲罗病基因
公开(公告)号：US20100009346A1
公开(公告)日：2010-01-14
申请号：US11979262
申请日：2007-10-31
申请人： Stephen W. Scherer , Berge A. Minassian , Antonio Delgado-Escueta , Guy Rouleu
发明人： Stephen W. Scherer , Berge A. Minassian , Antonio Delgado-Escueta , Guy Rouleu
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q2600/156 , C12Q2600/172
摘要： A novel gene (EPMZA) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EMP2A have been found that co-segregate with Lafora's disease.
摘要翻译：描述了在患有拉菲罗氏病的人中被删除或突变的新基因（EPMZA）。 EPM2A基因编码具有蛋白酪氨酸磷酸酶活性催化部位的蛋白质。已发现许多不同的序列突变以及EMP2A中的几个微缺失与Lafora病共分离。

10. 发明授权

US06825328B1 Lafora's disease gene 有权
标题翻译：拉菲罗病基因
公开(公告)号：US06825328B1
公开(公告)日：2004-11-30
申请号：US09744072
申请日：2001-07-02
申请人： Stephen W. Scherer , Berge A. Minassian , Antonio Delgado-Escueta , Guy Rouleu
发明人： Stephen W. Scherer , Berge A. Minassian , Antonio Delgado-Escueta , Guy Rouleu
IPC分类号： C07H2104
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q2600/156 , C12Q2600/172
摘要： Lafora's disease in humans is characterized by the mutation or deletion of an EPM2A gene, which encodes a protein, Laforin, having a tyrosine phosphatase domain. Many different sequence mutations, including microdeletions, in EPM2A co-segregate with, Lafora's disease. Accordingly, detection of mutations in EPM2 are useful in diagnosing Lafora's disease.
摘要翻译： Lafora在人体中的疾病的特征在于EPM2A基因的突变或缺失，其编码具有酪氨酸磷酸酶结构域的蛋白质Laforin。许多不同的序列突变，包括微缺失，在EPM2A中与Lafora病共同分离。因此，检测EPM2中的突变可用于诊断Lafora病。

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