Juvenile hemochromatosis gene (HFE2A) cleavage products and uses thereof

    公开(公告)号:US20060073497A1

    公开(公告)日:2006-04-06

    申请号:US11197710

    申请日:2005-08-04

    Abstract: Isolated fragments of the HFE2A protein able to bind and modulate HFE2A and other proteins, such as hepcidin, involved in the iron metabolism pathway are disclosed, such fragments being of molecular weight of approximately 7 kDa to 43 kDa. Also disclosed are corresponding isolated polynucleotides encoding the fragments of the HFE2A protein. The invention includes derivatives and analogs of the polypeptide fragments of HFE2A, along with compositions of these, that are functionally active, i.e. capable of interacting with the HFE2A, as well as methods of production of the HFE2A cleavage products, derivatives and analogs, e.g. by recombinant means. Methods for identifying modulators of HFE2A, comprising contacting a test compound with HFE2A and determining a change in HFE2A activity due to the compound, are provided. Also taught are methods of diagnosing an animal afflicted with or at risk of developing a disease of iron metabolism comprising determining a change in the level, amount or activity of a fragment of an HFE2A obtained in a sample from said animal relative to the level, amount or activity of a fragment of an HFE2A obtained in a control sample from an unaffected animal, wherein a change identifies said individual as being affect by or at risk of developing a disease of iron metabolism. Methods for treating and/or preventing a disorder in animals comprising administering to an animal afflicted therewith, or at risk of developing said disorder, a therapeutically effective amount of an HFE2A modulator are provided.

    AMPA-binding human GluR4 receptors
    114.
    发明授权
    AMPA-binding human GluR4 receptors 失效
    AMPA结合人GluR4受体

    公开(公告)号:US06372488B1

    公开(公告)日:2002-04-16

    申请号:US08473204

    申请日:1995-06-07

    CPC classification number: C07K14/70571 A61K48/00

    Abstract: Described herein are isolated polynucleotides which code for an AMPA-type human CNS receptor, designated the human GluR4B receptor. The receptor is characterized structurally and the construction and use of cell lines expressing the receptor is disclosed.

    Abstract translation: 本文描述了编码AMPA型人CNS受体的分离的多核苷酸,其命名为人GluR4B受体。 该受体的结构特征在于,公开了表达受体的细胞系的构建和用途。

    Kainate-binding human CNS receptors of the EAA1 family
    115.
    发明授权
    Kainate-binding human CNS receptors of the EAA1 family 失效
    EAA家族的Kainate结合人CNS受体

    公开(公告)号:US5616481A

    公开(公告)日:1997-04-01

    申请号:US416523

    申请日:1995-04-03

    CPC classification number: C07K14/70571

    Abstract: Neurotransmission by excitatory amino acids (EAAs) such as glutamate is mediated via membrane-bound surface receptors. DNA coding for one family of these receptors, of the kainate binding type of EAA receptors, has now been isolated and the receptor protein characterized. Herein described are recombinant cell lines which produce the EAA receptor as a heterologous membrane-bound product. Also described are related aspects of the invention, which are of commercial significance. Included is use of the cell lines as a tool for discovery of compounds which modulate EAA receptor stimulation.

    Abstract translation: 兴奋性氨基酸(EAAs)如谷氨酸的神经传递通过膜结合表面受体介导。 已经分离了编码这些受体的一个家族的类红景天结合型EAA受体的DNA,并且以受体蛋白为特征。 本文描述了产生作为异源膜结合产物的EAA受体的重组细胞系。 还描述了具有商业意义的本发明的相关方面。 包括使用细胞系作为发现调节EAA受体刺激的化合物的工具。

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