Article
Neuron-targeted gene therapy rescues multiple phenotypes of STXBP1-related disorders in mice and is well tolerated in nonhuman primates.
Molecular therapy : the journal of the American Society of Gene Therapy - 6 Aug 2025
Aeran Rangoli, Tanenhaus Annie, Sears Sheila M S, Moerke Nathan J, Miller Adam, Artur Camille, Bouhlal Yosr, Bove Peter F, Diaz de Arce Alexander J, Shimizu Saki, Le Jason, Place Keith, Hoffelt Dixon, Amarlkhagva Tselmeg, Su Jennifer, Chen Ming, Babineau Brooke A, McLaughlin John, Soe Myat, Macdonald Warren, Lin I Winnie, Bole Dhruv, Valentine Kristen M, Hallam Elizabeth, Dhanota Puja, Liu Serena, Tan Steven A, Zhao Ben, Hosur Raghavendra, Vila Maria Candida, Poda Suresh, Belle Archana, Tagliatela Stephanie
Abstract excerpt
De novo heterozygous variants in the neuronal STXBP1 gene cause severe, early-onset developmental and epileptic encephalopathy. Adeno-associated virus (AAV)-based gene replacement therapy offers the potential for a one-time, disease-modifying approach for STXBP1-related disorders. However, off-target overexpression in the liver and in the dorsal root ganglion (DRG) are known potential toxicities of AAV vectors....
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