STIM1 돌연변이를 포함하는, 근육긴장저하 관련 질환의 예방 또는 치료용 조성물
    3.
    发明公开
    STIM1 돌연변이를 포함하는, 근육긴장저하 관련 질환의 예방 또는 치료용 조성물 有权
    用于预防或治疗包含STIM1突变体的MUSCULAR HYPOTONIA相关疾病的组合物

    公开(公告)号:KR1020130119219A

    公开(公告)日:2013-10-31

    申请号:KR1020120042202

    申请日:2012-04-23

    CPC classification number: A61K38/17 Y10S514/907

    Abstract: PURPOSE: A composition for preventing and treating muscular hypotonia related diseases including STIM1 mutation is provided to improve muscular hyponia in patients suffering from skeletal muscular diseases and other diseases as well. CONSTITUTION: A pharmaceutical composition for preventing and treating muscular hypotonia related diseases selected among muscular hypotonia, Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, and Tay-Sachs disease. Stromal interaction molecule 1 (STIM1)-E136X protein having amino acid sequences of sequence number 1 or a gene coding the same is included. The STIM1-E136X protein or the gene coding the same increases calcium influx into cytoplasm for excitation-contraction mechanism of skeletal muscles, but no effect on store-operated Ca2+-entry (SOCE). The composition is applied to the patient has innate STIM1 mutation.

    Abstract translation: 目的:提供一种用于预防和治疗肌张力障碍相关疾病(包括STIM1突变)的组合物,以改善患有骨骼肌疾病和其他疾病的患者的肌肉酸钠。 构成:用于预防和治疗选自肌张力减低症,唐氏综合征,肌营养不良症,脑性麻痹,普拉德 - 威利综合征和泰萨克斯病的肌张力减低相关疾病的药物组合物。 包括具有序列号1的氨基酸序列的基质相互作用分子1(STIM1)-E136X蛋白或编码该基因的基因。 STIM1-E136X蛋白或编码该基因的基因增加钙向细胞质内流入骨骼肌的激发收缩机制,但对储存操作的Ca2 +(SOCE)无影响。 该组合物应用于具有先天性STIM1突变的患者。

    STIM1의 약제학적 용도
    6.
    发明公开
    STIM1의 약제학적 용도 无效
    药物使用STIM1

    公开(公告)号:KR1020150043032A

    公开(公告)日:2015-04-22

    申请号:KR1020130121970

    申请日:2013-10-14

    Abstract: 본발명은 STIM1의약제학적용도에관한것으로, STIM1의 C-말단즉, SERCA1a-binding region(STIM1-SBR: 449-671 아미노산서열부위)이라이아노딘수용체칼슘채널의활성을억제하므로상기 STIM1 또는 STIM1-SBR 저해제를이용하여 STIM1 단백질의전체양을조절하여라이아노딘수용체칼슘채널의활성저하를억제하고골격근수축을촉진함으로써골격근수축장애가있는근육긴장저하관련질환을예방또는치료할수 있다.

    Abstract translation: 本发明涉及STIM1的药物用途,其中作为SERCA1a结合区(STIM1-SBR:449-671氨基酸序列区)的STIM1的C-末端抑制兰诺定受体钙通道的活性。 因此,通过使用STIM1或STIM1-SBR抑制剂,调整STIM1蛋白质的总量,并抑制兰诺定受体钙通道的活性降低。 此外,促进骨骼肌收缩,从而预防或治疗与包括骨骼肌收缩障碍在内的低渗相关的疾病。

    MG53 저해제를 포함하는 브로디병과 브로디신드롬의 예방 또는 치료용 조성물
    8.
    发明公开
    MG53 저해제를 포함하는 브로디병과 브로디신드롬의 예방 또는 치료용 조성물 有权
    用于预防或治疗身体疾病的组合物和包含MG53抑制剂的BRODY SYNDROME

    公开(公告)号:KR1020140057051A

    公开(公告)日:2014-05-12

    申请号:KR1020120123687

    申请日:2012-11-02

    CPC classification number: A61K48/00 A61K39/395 G01N33/502

    Abstract: The present invention relates to a composition for the prevention or treatment of brody disease and brody syndrome comprising a mitsugumin 53 (MG53) inhibitor, and a disease treatment method using the composition for the prevention or treatment of brody disease and brody syndrome comprising a MG53 inhibitor. In addition, the present invention relates to a method for screening a therapeutic agent for muscle diseases by determining a medicine which inhibits interaction between MG53 and sarcoplasmic reticulum Ca2+-ATPase 1a (SERCA1a) as the therapeutic agent for muscle diseases including brody disease and brody syndrome.

    Abstract translation: 本发明涉及一种用于预防或治疗布氏病和布氏综合征的组合物,其包含三沙敏53(MG53)抑制剂,以及使用该组合物预防或治疗布氏病和布氏综合征的疾病治疗方法,其包含MG53抑制剂 。 另外,本发明涉及通过测定抑制MG53与肌浆网Ca2 + -ATPase1a(SERCA1a)之间的相互作用的药物作为肌肉疾病的治疗剂(包括布氏病和布氏综合征)来筛选肌肉疾病的治疗剂的方法 。

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