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公开(公告)号：US06489095B2
公开(公告)日：2002-12-03
申请号：US09098079
申请日：1998-06-15
IPC分类号： C12Q168
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q2600/156 , C12Q2600/172
摘要： Compositions and methods based on quantification of extramitochondrial DNA (exmtDNA) sequences are provided that are useful for detecting the presence of or risk for having a disease associated with altered mitochondrial function, and for identifying agents suitable for treating such diseases. The exmtDNA sequences have strong homology to authentic mitochondrial DNA (mtDNA) sequences.
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公开(公告)号：US06441149B1
公开(公告)日：2002-08-27
申请号：US09302681
申请日：1999-04-30
IPC分类号： C07H2102
CPC分类号： C12Q1/6827 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： Compositions and methods based on quantification of extramitochondrial DNA (exmtDNA) sequences are provided that are useful for detecting the presence of or risk for having a disease associated with altered mitochondrial function, and for identifying agents suitable for treating such diseases. The exmtDNA sequences have strong homology to authentic mitochondrial DNA (mtDNA) sequences.
摘要翻译： 提供了基于定量线粒体DNA（exmtDNA）序列的组合物和方法，其可用于检测与改变的线粒体功能相关的疾病的存在或风险，以及用于鉴定适合于治疗这些疾病的药剂。 exmtDNA序列与真实的线粒体DNA（mtDNA）序列具有很强的同源性。
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公开(公告)号：US6027883A
公开(公告)日：2000-02-22
申请号：US757438
申请日：1996-11-27
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q1/6858 , C12Q2600/156 , C12Q2600/16
摘要： A sample preparation procedure for mitochondrial (mt) DNA analysis is described. The present method for isolating mtDNA uses sedimentation techniques for separating erythrocytes from lymphocytes and platelets (crude buffy coat fraction), followed by DNA extraction from the crude buffy coat fraction by boiling in water. This approach improves the yield of mutant DNA, enhancing the sensitivity of subsequent mutation interrogation techniques and allowing for meaningful statistical treatment of the degree of heteroplasmy within the mitochondrial DNA.
摘要翻译： 描述了线粒体（mt）DNA分析的样品制备程序。 目前用于分离mtDNA的方法使用沉淀技术从淋巴细胞和血小板（粗血沉棕黄层级分离）中分离红细胞，然后通过在水中沸腾从粗血沉棕黄层级分提取DNA。 这种方法提高了突变DNA的产量，提高了随后的突变询问技术的敏感性，并允许有意义的统计学处理线粒体DNA内的异质性程度。
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4.发明授权Compositions and methods for identifying agents that quantitatively alter detectable extramitochondrial DNA:mitochondrial DNA ratios 失效用于鉴定定量改变可检测的线粒体DNA的试剂的组合物和方法：线粒体DNA比率公开(公告)号：US06218117B1
公开(公告)日：2001-04-17
申请号：US09097889
申请日：1998-06-15
IPC分类号： C12Q168
CPC分类号： C12Q1/6827 , C12Q1/6883 , C12Q2600/136 , C12Q2600/156 , C12Q2600/172
摘要： Compositions and methods based on quantification of extramitochondrial DNA (exmtDNA) sequences are provided that are useful for detecting the presence of or risk for having a disease associated with altered mitochondrial function, and for identifying agents suitable for treating such diseases. The exmtDNA sequences have strong homology to authentic mitochondrial DNA (mtDNA) sequences.
摘要翻译： 提供了基于定量线粒体DNA（exmtDNA）序列的组合物和方法，其可用于检测与改变的线粒体功能相关的疾病的存在或风险，以及用于鉴定适合于治疗这些疾病的药剂。 exmtDNA序列与真实的线粒体DNA（mtDNA）序列具有很强的同源性。
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5.发明授权公开(公告)号：US07001729B2
公开(公告)日：2006-02-21
申请号：US09811131
申请日：2001-03-14
申请人： Christen M. Anderson , Robert E. Davis , William Clevenger , Sandra Eileen Wiley , Scott W. Miller , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
发明人： Christen M. Anderson , Robert E. Davis , William Clevenger , Sandra Eileen Wiley , Scott W. Miller , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
IPC分类号： G01N29/00 , G01N33/573 , C12N11/00
CPC分类号： C07K14/47 , C07K2319/00 , C07K2319/07 , C07K2319/21 , C07K2319/23 , C12N15/62 , C12N2799/021
摘要： Compositions and methods are provided for producing adenine nucleotide translocator (ANT) polypeptides and fusion proteins, including the production and use of recombinant expression constructs having a regulated promoter. ANT ligands and compositions and methods for identifying ANT ligands, agents that bind ANT and agents that interact with ANT are also disclosed.
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6.发明授权Production of adenine nucleotide translocator (ANT), novel ANT ligands and screening assays therefor. 失效腺嘌呤核苷酸转运蛋白（ANT）的生产，新型ANT配体及其筛选试验。公开(公告)号：US06906175B2
公开(公告)日：2005-06-14
申请号：US09809889
申请日：2001-03-16
申请人： Christen M. Anderson , Robert E. Davis , William Clevenger , Sandra Eileen Wiley , Scott W. Miller , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
发明人： Christen M. Anderson , Robert E. Davis , William Clevenger , Sandra Eileen Wiley , Scott W. Miller , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
IPC分类号： G01N33/50 , A61K31/704 , A61K31/7048 , A61K31/7056 , A61K31/7064 , A61K45/00 , A61P3/00 , A61P3/10 , A61P17/06 , A61P25/08 , A61P25/14 , A61P25/16 , A61P25/18 , A61P25/28 , A61P27/16 , A61P35/00 , A61P43/00 , C07H15/256 , C07H15/26 , C07K1/22 , C07K14/47 , C07K19/00 , C12N1/15 , C12N1/19 , C12N1/21 , C12N5/10 , C12N15/09 , C12N15/12 , C12N15/62 , C12P21/02 , C12Q1/02 , C12Q1/68 , G01N33/15 , G01N33/53 , G01N33/566 , C07K1/00 , C07K14/00
CPC分类号： C07K14/47 , C07K2319/00 , C07K2319/07 , C07K2319/21 , C07K2319/23 , C12N15/62 , C12N2799/021
摘要： Compositions and methods are provided for producing adenine nucleotide translocator (ANT) polypeptides and fusion proteins, including the production and use of recombinant expression constructs having a regulated promoter. ANT ligands and compositions and methods for identifying ANT ligands, agents that bind ANT and agents that interact with ANT are also disclosed.
摘要翻译： 提供了用于产生腺嘌呤核苷酸转运蛋白（ANT）多肽和融合蛋白的组合物和方法，包括产生和使用具有调节启动子的重组表达构建体。 还公开了ANT配体以及用于鉴定ANT配体的组合物和方法，结合ANT的试剂和与ANT相互作用的试剂。
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7.发明授权Production of adenine nucleotide translocator (ANT), novel ANT ligands and screening assays therefor 失效腺嘌呤核苷酸转运蛋白（ANT）的生产，新型ANT配体及其筛选试验公开(公告)号：US06902908B2
公开(公告)日：2005-06-07
申请号：US09811094
申请日：2001-03-14
申请人： Christen M. Anderson , Robert E. Davis , William Clevenger , Sandra Eileen Wiley , Scott W. Miller , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
发明人： Christen M. Anderson , Robert E. Davis , William Clevenger , Sandra Eileen Wiley , Scott W. Miller , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
IPC分类号： G01N33/50 , A61K31/704 , A61K31/7048 , A61K31/7056 , A61K31/7064 , A61K45/00 , A61P3/00 , A61P3/10 , A61P17/06 , A61P25/08 , A61P25/14 , A61P25/16 , A61P25/18 , A61P25/28 , A61P27/16 , A61P35/00 , A61P43/00 , C07H15/256 , C07H15/26 , C07K1/22 , C07K14/47 , C07K19/00 , C12N1/15 , C12N1/19 , C12N1/21 , C12N5/10 , C12N15/09 , C12N15/12 , C12N15/62 , C12P21/02 , C12Q1/02 , C12Q1/68 , G01N33/15 , G01N33/53 , G01N33/566 , C12N15/00 , C07H21/04 , C12N15/63
CPC分类号： C07K14/47 , C07K2319/00 , C07K2319/07 , C07K2319/21 , C07K2319/23 , C12N15/62 , C12N2799/021
摘要： Compositions and methods are provided for producing adenine nucleotide translocator (ANT) polypeptides and fusion proteins, including the production and use of recombinant expression constructs having a regulated promoter. ANT ligands and compositions and methods for identifying ANT ligands, agents that bind ANT and agents that interact with ANT are also disclosed.
摘要翻译： 提供了用于产生腺嘌呤核苷酸转运蛋白（ANT）多肽和融合蛋白的组合物和方法，包括产生和使用具有调节启动子的重组表达构建体。 还公开了ANT配体以及用于鉴定ANT配体的组合物和方法，结合ANT的试剂和与ANT相互作用的试剂。
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8.发明授权Cellular models for diabetes and other diseases associated with mitochondrial defects 有权糖尿病和其他与线粒体缺陷相关的疾病的细胞模型
公开(公告)号：US6146831A
公开(公告)日：2000-11-14
申请号：US200419
申请日：1998-11-23
IPC分类号： G01N33/53 , A61K38/00 , A61K39/395 , A61K41/00 , A61K45/00 , A61K48/00 , C07D219/08 , C07K14/47 , C07K16/40 , C12N5/06 , C12N5/08 , C12N9/00 , C12N9/02 , C12N15/09 , C12P21/04 , C12P21/08 , C12Q1/00 , C12Q1/68 , C12P1/02
CPC分类号： C12N9/93 , C07D219/08 , C07K14/4711 , C07K14/4713 , C12N9/0053 , C12Q1/6806 , C12Q1/6883 , A61K38/00 , C12Q2600/156
摘要： The present invention relates to genetic mutations in mitochondrial genes that segregate with diabetes mellitus. The invention provides methods for detecting such mutations, as a diagnostic for diabetes mellitus, either before or after the onset of clinical symptoms. Examples of specific mutations in the mitochondrial ATP synthase 8/6 gene and tRNA lysine gene are given. The invention also provides treatments for dysfunctions due to mitochondrial genes that segregate with diabetes mellitus. Cybrid cell lines are described which are useful as model systems for the study of the mitochondrial metabolic disorders that are associated with diabetes mellitus, and for identifying therapeutic compounds and treatments for this disease.
摘要翻译： 本发明涉及与糖尿病分离的线粒体基因中的遗传突变。 本发明提供在临床症状发作之前或之后检测这种突变作为糖尿病诊断的方法。 给出了线粒体ATP合成酶8/6基因和tRNA赖氨酸基因中特异突变的实例。 本发明还提供了由于与糖尿病分离的线粒体基因引起的功能障碍的治疗。 描述了杂交细胞系，其可用作研究与糖尿病相关的线粒体代谢紊乱的模型系统，并且用于鉴定该疾病的治疗化合物和治疗。
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9.发明授权公开(公告)号：US06887670B2
公开(公告)日：2005-05-03
申请号：US09811132
申请日：2001-03-14
申请人： Christen M. Anderson , Robert E. Davis , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
发明人： Christen M. Anderson , Robert E. Davis , Tomas R. Szabo , Soumitra S. Ghosh , Walter H. Moos , Yazhong Pei
IPC分类号： G01N33/50 , A61K31/704 , A61K31/7048 , A61K31/7056 , A61K31/7064 , A61K45/00 , A61P3/00 , A61P3/10 , A61P17/06 , A61P25/08 , A61P25/14 , A61P25/16 , A61P25/18 , A61P25/28 , A61P27/16 , A61P35/00 , A61P43/00 , C07H15/256 , C07H15/26 , C07K1/22 , C07K14/47 , C07K19/00 , C12N1/15 , C12N1/19 , C12N1/21 , C12N5/10 , C12N15/09 , C12N15/12 , C12N15/62 , C12P21/02 , C12Q1/02 , C12Q1/68 , G01N33/15 , G01N33/53 , G01N33/566 , C07K1/00 , C07K1/14 , C07K1/16 , C07K17/00
CPC分类号： C07K14/47 , C07K2319/00 , C07K2319/07 , C07K2319/21 , C07K2319/23 , C12N15/62 , C12N2799/021
摘要： Compositions and methods are provided for producing adenine nucleotide translocator (ANT) polypeptides and fusion proteins, including the production and use of recombinant expression constructs having a regulated promoter. ANT ligands and compositions and methods for identifying ANT ligands, agents that bind ANT and agents that interact with ANT are also disclosed.
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10.发明授权Methods and compositions for diagnosing and treating arthritic disorders and regulating bone mass 失效用于诊断和治疗关节炎疾病和调节骨量的方法和组合物公开(公告)号：US07005274B1
公开(公告)日：2006-02-28
申请号：US09661848
申请日：2000-09-14
申请人： Robert Terkeltaub , Anne N. Murphy , James A. Dykens , Soumitra S. Ghosh , Robert E. Davis , Andrew E. Granston, Jr.
发明人： Robert Terkeltaub , Anne N. Murphy , James A. Dykens , Soumitra S. Ghosh , Robert E. Davis , Andrew E. Granston, Jr.
IPC分类号： C12Q1/02
CPC分类号： G01N33/5088 , G01N33/6887 , G01N2333/4722 , G01N2333/495 , G01N2333/78 , G01N2400/40 , G01N2800/102 , G01N2800/105
摘要： The present invention relates to improved diagnostic methods for early detection of a risk for developing an arthritic disorder in humans, and screening assays for therapeutic agents useful in the treatment of arthritic disorders, by comparing the levels of one or more indicators of altered mitochondrial function. Indicators of altered mitochondrial function include enzymes such as mitochondrial enzymes and ATP biosynthesis factors. Other indicators of altered mitochondrial function include mitochondrial mass, mitochondrial number and mitochondrial DNA content, cellular responses to elevated intracellular calcium and to apoptogens, and free radical production. Methods of treating, and of stratifying, human patients as such methods relate to disclosed indicators of altered mitchondrial function are also provided.
摘要翻译： 本发明涉及通过比较改变的线粒体功能的一个或多个指示剂的水平，用于早期发现人类关节炎疾病的风险的改进的诊断方法以及用于治疗关节炎疾病的治疗剂的筛选测定。 改变线粒体功能的指标包括线粒体酶和ATP生物合成因子等酶。 改变的线粒体功能的其他指标包括线粒体质量，线粒体数量和线粒体DNA含量，细胞内升高的钙和凋亡细胞的反应以及自由基生成。 还提供了用于治疗和分层人类患者的方法，这些方法涉及公开的改变的脑膜功能指标。
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