SYNJ1的突变与两种不同的表型有关:EO PD和具有顽固性癫痫发作的严重神经变性障碍,即SYNJ1突变的患者显示出高度可变的表型。 因此来自法国和美国的研究人员在460个索引案例中对基因测序结果进行了数据挖掘,以识别SYNJ1相关早发性PD的临床变异性。 1...
ChemicalBook 致力于为化学行业用户提供抗 HUMAN SYNJ1 纳米抗体 (SAA1056)(RHA67001)的性质、化学式、分子式、比重、密度,同时也包括抗 HUMAN SYNJ1 纳米抗体 (SAA1056)(RHA67001)的沸点、熔点、MSDS、用途、作用、毒性、价格、生产厂家、用途、上游原料、下游产品等信息。
Recent evidence links dysfunctional lipid metabolism to the pathogenesis of Parkinson's disease, but the mechanisms are not resolved. Here, we generated a newknock-in model ofand find that the pathogenic mutation causes synaptic dysfunction, neurological defects and neurodegeneration, as well as ...
英文名称:Human Synaptojanin 1(SYNJ1)ELISA Kit 用途:用于测定血清,血浆及相关液体等样本。 产地:国产 品牌:翊立飒 包装规格:48T/96T 标记物:详见说明书 样本:血清、血浆、细胞上清液、尿液、体液、灌洗液、脑脊髓、心房水、胸房水、组织等。 检测方法:酶联免疫法 ...
英文名称:Synaptojanin 1 (SYNJ1) Antibody (FITC),中文名称:突触素1(SYNJ1)抗体(FITC),产品货号:Catalogue No: abx337854,SYNJ1抗体(FITC)是一种抗SYNJ1的兔多克隆抗体。靶SYNJ1反应性人宿主兔克隆性多克隆试验应用ELISA推荐稀
举几个表型比较严重的分型,如3型,53型,13型,患者有可能智力障碍,不能行走,甚至存活到13-15岁左右。进行性癫痫性脑病3型(AR遗传方式,关联基因:SYNJ1)是一种严重的癫痫症,其特征为婴儿期起病、频繁的强直性癫痫或痉挛伴随抑制爆发模式的脑电图(EEG),以高压爆发与几乎平坦的抑制相位交替出现为特点。癫痫性脑病...
Synaptojanin 1, encoded bySYNJ1, is a lipid phosphatase abundantly expressed in brain tissues5which plays an important role in synaptic trafficking and in autophagic clearance6,7,8. The protein consists of three functionally distinct domains: Sac1, 5-phosphatase, and proline rich domains (PRD)9...
SYNJ1 In this project we studied role of rare SYNJ1 variants in Parkinson's disease ##Role of rare SYNJ1 variants## #Cohorts sequenced at McGill# For cohorts sequenced at McGill SYNJ1 gene was captured using molecular inversion probs. Full protocol is available at https://github.com/gan-...
SYNJ1 (Synaptojanin 1) encodes a poly-phosphoionositide phosphatase consisting of two inositol 5-phosphatase domains and a COOH-terminal proline rich region. SYNJ1 is highly expressed in the presynaptic nerve terminals of the adult brain. 免疫原 Synaptojanin-1 recombinant protein epitope signature ta...
英文名称:SYNJ1 Recombinant Protein (Q01) with GST总访问:430 国产/进口:进口半年访问:14 产地/品牌:Abnova产品类别:抗体 规格:10UG最后更新:2024-12-5 货号: CAS 号: 参考报价:3750元 立即询价电话咨询 [发表评论][本类其他产品][本类其他供应商][收藏] ...