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http://dx.doi.org/10.1007/s00415-021-10839-5 | DOI Listing |
Proc Natl Acad Sci U S A
September 2025
Trans Am Clin Climatol Assoc
August 2025
Iowa City, IA.
A critical adaptation required for successful extrauterine life is the onset of respiration. The production of pulmonary surfactant by alveolar type II (AT2) cells is required for functional ventilation. Pulmonary surfactant is produced in lamellar bodies in AT2 cells.
View Article and Find Full Text PDFMol Ther
July 2025
Department of Biomedicine, Aarhus University, 8000 Aarhus C, Denmark. Electronic address:
GATA2 deficiency is a rare inborn error of immunity caused by monoallelic variants in the GATA2 gene, leading to dysfunction of hematopoietic stem and progenitor cells (HSPCs). Here, we investigate a potential therapeutic strategy for GATA2 deficiency based on CRISPR-Cas9-based gene correction, utilizing recombinant adeno-associated virus serotype 6 (rAAV6) as a template for homology-directed repair (HDR). For a 7-base pair (bp) deletion giving rise to GATA2 deficiency, we identify a single guide RNA (sgRNA) supporting allele-specific cleavage in the disease allele.
View Article and Find Full Text PDFBiochem Soc Trans
July 2025
Department of Bioengineering, iBB - Institute for Bioengineering and Biosciences, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal.
Pluripotent stem cells (PSCs) possess the remarkable ability to self-renew and differentiate into nearly any cell type, making them invaluable for both research and therapeutic applications. Despite these powerful attributes, PSCs are vulnerable to genetic and epigenetic instabilities that can undermine their reliability and safety. While genetic abnormalities can be routinely monitored with established guidelines, epigenetic instabilities often go unchecked.
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July 2025
National Children's Medical Center, Children's Hospital, Institute for Translational Brain Research, State Key Laboratory of Brain Function and Disorders, MOE Frontiers Center for Brain Science, MOE Innovative Center for New Drug Development of Immune Inflammatory Diseases, Shanghai Key Laboratory o
Colony-stimulating factor 1 receptor () is primarily expressed in microglia. Its monoallelic mutation causes CSF1R-associated microgliopathy (CAMP), a major form of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and a fatal neurological disease without clinical cure. We developed mouse models harboring human hotspot mutations of CAMP and replaced CSF1R-deficient microglia with CSF1R-normal cells through microglia replacement by bone marrow transplantation (Mr BMT), which attenuated pathology in mice.
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