Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease
Sign Up to like & getrecommendations! Published in 2020 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2020.102735
Abstract: Background Enzyme replacement therapy (ERT) can positively affect the visceral manifestations of lysosomal storage diseases (LSDs). However, the exclusion of the intravenous ERT agents from the central nervous system (CNS) prevents direct therapeutic effects. Methods… read more here.
Keywords: gcase; cns; sapc dops; blood ... See more keywords
Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2017.05.010
Abstract: Gaucher disease is a lysosomal storage disorder caused by a deficiency in glucocerebrosidase activity that leads to accumulation of glucosylceramide and glucosylsphingosine. Membrane raft microdomains are discrete, highly organized microdomains with a unique lipid composition… read more here.
Keywords: neuronopathic gaucher; gaucher; lipid composition; gaucher disease ... See more keywords
Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.7554/elife.79830
Abstract: Background Neuronopathic Gaucher Disease (nGD) is a rare neurodegenerative disorder caused by biallelic mutations in Gba, and buildup of glycosphingolipids in lysosomes. Neuronal injury and cell death are prominent pathological features, however the role of… read more here.
Keywords: neuroinflammation; microglia cells; role; gaucher disease ... See more keywords