Publications by authors named "John Avila"
Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome.
Mol Ther Methods Clin Dev
March 2024
Article Synopsis
- - Wiskott-Aldrich syndrome (WAS) is a serious genetic disorder caused by mutations in a gene that affects immune system function, particularly impacting blood cells.
- - The study aimed to develop a gene correction technique that could work for most WAS patients by integrating a corrective gene sequence into their own cells, specifically targeting their hematopoietic stem cells.
- - The researchers successfully demonstrated that this approach restored normal protein function in immune cells from WAS patients, suggesting a promising method for future treatments using the patients' own modified cells.
The Wiskott-Aldrich syndrome (WAS) is an X-linked primary immune deficiency caused by a mutation in the WAS gene. This leads to altered or absent WAS protein (WASp) expression and function resulting in thrombocytopenia, eczema, recurrent infections, and autoimmunity. In T cells, WASp is required for immune synapse formation.
View Article and Find Full Text PDFGenerating the correct balance of inhibitory and excitatory neurons in a neural network is essential for normal functioning of a nervous system. The neural network in the dorsal spinal cord functions in somatosensation where it modulates and relays sensory information from the periphery. PTF1A is a key transcriptional regulator present in a specific subset of neural progenitor cells in the dorsal spinal cord, cerebellum and retina that functions to specify an inhibitory neuronal fate while suppressing excitatory neuronal fates.
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