Associated Papers
Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons.
Grossmann D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Impact of Organelle Transport Deficits on Mitophagy and Autophagy in Niemann-Pick Disease Type C.
Liedtke M et al.
Cells, 2022
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Abtahi R et al.
Hereditas, 2022
Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems.
Völkner C et al.
Cells, 2022
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.
Völkner C et al.
International Journal of Molecular Sciences, 2021
Oxidative Stress and Alterations in the Antioxidative Defense System in Neuronal Cells Derived from NPC1 Patient-Specific Induced Pluripotent Stem Cells.
Jürs AV et al.
International Journal of Molecular Sciences, 2020
Role of induced pluripotent stem cells in lysosomal storage diseases.
Kido J et al.
Molecular and Cellular Neurosciences, 2020
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.
Petters J et al.
Stem Cell Research, 2020
Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.
Völkner C et al.
Stem Cell Research, 2019
iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.
Hollingsworth EW et al.
Embo Molecular Medicine, 2017
29051230 (PubMed )
Supplement: EMMM-9-1742-s001.pdf
Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors.
Rabenstein M et al.
Molecular and Cellular Neurosciences, 2017
Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.
Peter F et al.
Orphanet Journal of Rare Diseases, 2017
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation.
Peter F et al.
Data in Brief, 2017
Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons.
Trilck M et al.
Brain Research, 2017
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