公开(公告)号：EP1885366B1

公开(公告)日：2018-05-30

申请号：EP06772163.9

申请日：2006-06-05

申请人： Amicus Therapeutics, Inc. ,  Université de Montréal

发明人： Fan, Jian-qiang ,  Vanlenzano, Ken ,  Lee, Gary ,  Bouvier, Michel ,  René, Patricia

IPC分类号： A61K31/497 ,  A61K31/505 ,  A61K9/00 ,  A61K31/495

CPC分类号： A61K31/495 ,  A61K9/0053 ,  A61K31/497 ,  A61K31/505 ,  C07K14/723

摘要： The invention relates to methods of enhancing normal melanocortin-4 receptor (MC4R) activity, and to enhancing activity of an MC4R having a mutation which affects protein folding and/or processing of the MC4R. The invention provides a method of treating an individual having a condition in which increased activity of an MC4R at the cell surface would be beneficial, for example in obesity, by administering an effective amount of a pharmacological chaperone for the MC4R. The invention provides MC4R pharmacological chaperones which enhance the activity of MC4R. The invention further provides a method of screening to identify pharmacological chaperones which enhance folding of an MC4R in the endoplasmic reticulum (ER), in order to enhance the activity of the MC4R at the cell surface.

公开(公告)号：EP2933265A3

公开(公告)日：2015-12-30

申请号：EP15153180.3

申请日：2006-06-05

申请人： Amicus Therapeutics, Inc.

发明人： Fan, Jian-qiang ,  Vanlenzano, Ken ,  Lee, Gary ,  Bouvier, Michel

IPC分类号： C07K14/72 ,  C12N5/071 ,  A61K31/497 ,  A61K31/505 ,  A61K31/4164

CPC分类号： A61K31/495 ,  A61K9/0053 ,  A61K31/497 ,  A61K31/505 ,  C07K14/723

摘要： The invention relates to methods of enhancing normal melanocortin-4 receptor (MC4R) activity, and to enhancing activity of an MC4R having a mutation which affects protein folding and/or processing of the MC4R. The invention provides a method of treating an individual having a condition in which increased activity of an MC4R at the cell surface would be beneficial, for example in obesity, by administering an effective amount of a pharmacological chaperone for the MC4R. The invention provides MC4R pharmacological chaperones which enhance the activity of MC4R. The invention further provides a method of screening to identify pharmacological chaperones which enhance folding of an MC4R in the endoplasmic reticulum (ER), in order to enhance the activity of the MC4R at the cell surface.

公开(公告)号：EP2933265A2

公开(公告)日：2015-10-21

申请号：EP15153180.3

申请日：2006-06-05

申请人： Amicus Therapeutics, Inc.

发明人： Fan, Jian-qiang ,  Vanlenzano, Ken ,  Lee, Gary ,  Bouvier, Michel

IPC分类号： C07K14/72 ,  C12N5/071 ,  A61K31/497 ,  A61K31/505 ,  A61K31/4164

CPC分类号： A61K31/495 ,  A61K9/0053 ,  A61K31/497 ,  A61K31/505 ,  C07K14/723

摘要： The invention relates to methods of enhancing normal melanocortin-4 receptor (MC4R) activity, and to enhancing activity of an MC4R having a mutation which affects protein folding and/or processing of the MC4R. The invention provides a method of treating an individual having a condition in which increased activity of an MC4R at the cell surface would be beneficial, for example in obesity, by administering an effective amount of a pharmacological chaperone for the MC4R. The invention provides MC4R pharmacological chaperones which enhance the activity of MC4R. The invention further provides a method of screening to identify pharmacological chaperones which enhance folding of an MC4R in the endoplasmic reticulum (ER), in order to enhance the activity of the MC4R at the cell surface.

摘要翻译： 本发明涉及增强正常黑皮质素-4受体（MC4R）活性和增强具有影响蛋白质折叠和/或MC4R加工的突变的MC4R的活性的方法。 本发明提供了治疗患有MC4R活性增加的病症的个体的方法，所述病症例如在肥胖症中通过给予MC4R的有效量的药理伴侣分子而有益。 本发明提供了增强MC4R活性的MC4R药理分子伴侣。 本发明进一步提供筛选方法以鉴定增强内质网（ER）中MC4R折叠的药理学分子伴侣，以增强MC4R在细胞表面的活性。