Lyso GL-1Lyso GL-3Gaucher diseaseFabry diseaseLysosomal storage disorders (LSDs) remain a significant cause of morbidity in the Indian population and treatment is largely out of reach for most patients. Although data on enzymatic and molecular diagnosis of Gaucher disease (GD) and Fabry disease ...
1. 使用基因编辑构建THP-1细胞的GD模型,助力GD病理生理学研究和高通量药物筛选 戈谢病(GD)是由酸性β-葡萄糖苷酶基因(GBA1)突变引起的一种常染色体隐性溶酶体沉积病,会导致酸性β-葡萄糖苷酶(GCase)活性不足,随后在溶酶体内逐渐积累糖基神经酰胺(GlcCer)和糖基鞘氨醇(LysoGL1)。一直以来研究人员专注于开发有效...
PF428 GLUCOSYLSPHINGOSINE (LYSO-GL-1), A BIOMARKER OF GAUCHER DISEASE, CORRELATES WITH DISEASE SEVERITY AND RESPONSE TO ELIGLUSTAT IN 2 CLINICAL TRIALS OF TREATMENT-NAVE ADULTS WITH GAUCHER DISEASE TYPE 1doi:10.1097/01.HS9.0000559924.19634.a3Peterschmitt, M.J....
Evaluation of disease burden and therapy modifications using glucosylsphingosine (lyso-GL1) in Gaucher diseasedoi:10.1016/j.ymgme.2018.12.097Julia DaoOzlem Goker-AlpanRenuka LimgalaElsevier BVMolecular Genetics and Metabolism
1. 使用基因编辑构建THP-1细胞的GD模型,助力GD病理生理学研究和高通量药物筛选 戈谢病(GD)是由酸性β-葡萄糖苷酶基因(GBA1)突变引起的一种常染色体隐性溶酶体沉积病,会导致酸性β-葡萄糖苷酶(GCase)活性不足,随后在溶酶体内逐渐积累糖基神经酰胺(GlcCer)和糖基鞘氨醇(LysoGL1)。一直以来研究人员专注于开发有效...
The protein Mfsd2a (Major Facilitator Superfamily Domain Containing 2a), a specific Na + -dependent transporter of lysophosphatidylcholine (lysoPC) esterified by omega-3 polyunsaturated fatty acids (PUFA), is selectively expressed in the endothelium of brain capillaries. This review summarizes...