Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders characterized by lysosomal dysfunction and progressive accumulation of undegraded substrates, leading to multisystem involvement and, in many cases, severe neurodegeneration. Because the blood-brain barrier (BBB) restricts central nervo...
Li-Yan Qiu, Jonas Ungerbäck, E. Bennett et al.· BioDrugs· 0 citations
GATA2 (GATA binding protein 2) deficiency is a severe immunodeficiency caused by heterozygous variants in the gene encoding the transcription factor GATA2. Ex vivo gene editing of a patient's own CD34+ hematopoietic stem and progenitor cells (HSPCs) could provide curative treatment. However, current methods that rely o...
J. H. Wolff, T. W. Skov, S. R. Dorset et al.· Science Translational Medici...· 0 citations
This work provides mechanistic evidence that a position effect at the SOX3 locus can cause hereditary spastic paraplegia and identifies a 3D regulatory rewiring of SOX3 and transcriptional dysregulation of SOX3 targets in iPSC-derived neurons.
T. Terkelsen, V. Yumiceba, Joshua Kim et al.· American Journal of Human Ge...· 0 citations
Human induced pluripotent stem cells (hiPSCs) represent a powerful platform for disease modeling, especially in monogenic diseases as they preserve the donor’s genetic background while enabling directed differentiation into disease-relevant cell types. This makes them highly suitable for studying disease mechanisms in...
D. Skoczek, J. Hohendorff, Maciej T. Małecki et al.· Human Genetics· 0 citations
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