Cargando…
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the “Variant” Biochemical Phenotype of Niemann-Pick Type C1 Disease
Niemann–Pick disease type C1 (NP-C1) is a rare lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 gene. Patients display a wide spectrum on the clinical as well as on the molecular level, wherein a so-called “variant” biochemical phenotype can be observed. Here, we report...
Autores principales: | Völkner, Christin, Liedtke, Maik, Untucht, Robert, Hermann, Andreas, Frech, Moritz J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624182/ https://www.ncbi.nlm.nih.gov/pubmed/34830064 http://dx.doi.org/10.3390/ijms222212184 |
Ejemplares similares
-
Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems
por: Völkner, Christin, et al.
Publicado: (2022) -
Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann–Pick Disease Type C
por: Liedtke, Maik, et al.
Publicado: (2022) -
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1
por: Völkner, Christin, et al.
Publicado: (2021) -
Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations c.58G>T/c.140G>T
por: Liedtke, Maik, et al.
Publicado: (2021) -
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1
por: Prabhu, Anika V., et al.
Publicado: (2021)