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Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency.
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December 2024
Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia. Electronic address:
A rare neurodevelopmental disorder has been linked to a well-conserved splice site variant in the TRAPPC4 gene (c.454 + 3A > G), which causes mis-splicing of TRAPPC4 transcripts and reduced levels of TRAPPC4 protein. Patients present with severe progressive neurological symptoms including seizures, microcephaly, intellectual disability and facial dysmorphism.
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University Health Care Research Center, Faculty of Medicine and Health, Örebro University, Universitetssjukhuset Örebro, S-huset, vån 2, 701 85, Örebro, Sweden.
Canine Best disease as a translational model.
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January 2025
Division of Experimental Retinal Therapies, Department of Clinical Sciences, University of Pennsylvania, School of Veterinary Medicine, Philadelphia, PA, 19104, USA.
In this review, we summarize the findings of several pre-clinical studies in the canine BEST1 disease model. To this end, client-owned and purpose bred dogs that were compound heterozygotes or homozygotes, respectively, for two or one of 3 different mutations in BEST1 were evaluated by ophthalmic examination, cSLO/sdOCT imaging, and retinal immunohistochemistry to characterize the clinical and microanatomic features of the disease. Subsequently AAV-mediated gene therapy was done to transfer the BEST1 transgene to the RPE under control of a hVMD2 promoter.
View Article and Find Full Text PDFDFT Study of the Stability and Electronic Properties of Ni-Doped Defected (6,0) and (8,0) Single-Walled Carbon Nanotubes.
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Faculty of Science and Technology, Norwegian University of Life Sciences, Drøbakveien 31, 1430 Ås, Norway.
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