Alpha-mannosidosis and compassionate use of alpha-mannosidase (Lamazym™): Two case reports
| Autor: | Mercedes Gil Campos, Gema Perez Martin, Valerio Delgado-Cirerol, Jesus Lacasa-Marzo, Enrique Berrocal-Valencia, Mónica López-Rodríguez, Raquel Fuentes-Irigoyen, Olga Tornero-Torres |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Chemistry
Cholesterol Endocrinology Diabetes and Metabolism Alpha-mannosidosis Kinetics Endocytic cycle food and beverages medicine.disease alpha-Mannosidase Biochemistry Exocytosis Neural stem cell Cell biology chemistry.chemical_compound Endocrinology Genetics medicine heterocyclic compounds lipids (amino acids peptides and proteins) Signal transduction Molecular Biology |
| Zdroj: | Molecular Genetics and Metabolism. 114:S75 |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2014.12.162 |
| Popis: | We have previously reported that delta-tocopherol reduces lysosomal cholesterol accumulation in type C Niemann-Pick disease patient derived fibroblasts and neural stem cells. However, although we found that delta-tocopherol increases exocytosis in the patient cells, the precise molecular mechanism of delta-tocopherol's action is not clear and its cellular distribution and kinetics in cells have not been reported yet. We have used a fluorescence labeled deltatocopherol to study the kinetics of this molecule entering and exiting cells. We found that the fluorescence labeled delta-tocopherol enters cells quickly potentially through an endocytic mechanism. This fluorescence labeled delta-tocopherol also reduced cholesterol accumulation in the NPC cells with an EC50 of 1 to 2 μM. We are currently studying the signaling pathway of delta-tocopherol on the reduction of lysosomal accumulated cholesterol in the NPC cells. We will present our results that will demonstrate the molecular mechanism of delta-tocopherol's action on reduction of lysosomal cholesterol accumulation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect