Cargando…
Induced Pluripotent Stem Cell Modeling of Gaucher’s Disease: What Have We Learned?
Gaucher’s disease (GD) is the most frequently inherited lysosomal storage disease, presenting both visceral and neurologic symptoms. Mutations in acid β-glucocerebrosidase disrupt the sphingolipid catabolic pathway promoting glucosylceramide (GlcCer) accumulation in lysosomes. Current treatment opti...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412467/ https://www.ncbi.nlm.nih.gov/pubmed/28430167 http://dx.doi.org/10.3390/ijms18040888 |