Search Results - disease+model

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Viral Vector-Based Gene Therapy for OPA1 Gene Mutation-Induced Dominant Optic Atrophy (UCLA Case No. 2025-004)
UCLA researchers in the Department of Ophthalmology have developed a viral vector-based gene therapy to restore OPA1 protein levels in patients with OPA1-mutated dominant optic atrophy. The optimized vectors will be delivered intravitreally to patients’ eyes, providing a minimally invasive, effective treatment with reduced side effects. BACKGROUND:...
Published: 3/6/2025   |   Inventor(s): Xianjie Yang
Keywords(s): Adeno-associated viruses (AAV), disease model, dominant optic atrophy, Gene Therapy, intravitreal delivery, Lentivirus Viral Vector, mitochondria, mutation, Neuron, OPA1, Ophthalmology, pluripotent stem cell (PSC), retinal ganglion cell
Category(s): Therapeutics > CNS and Neurology, Therapeutics > Gene Therapy And Editing, Therapeutics > Ophthalmology
HSA LR Mice (Mouse Model of Myotonic Dystrophy)
ApplicationsThe invention offers a transgenic mouse model for myotonic dystrophy. This mouse model expresses expanded CUG repeats and develops myotonia and myopathy. This model can be utilized to examine interactions between the loss- and gain-of-function effects of the mutation and to investigate the mechanism for nuclear retention and toxicity of...
Published: 10/28/2024   |   Inventor(s): Charles Thornton
Keywords(s): Disease Model, Mouse, Musculoskeletal, Research Tool
Category(s): Research Tools