Patient derived model of UBA5 -associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies.

Autor: Chen H; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Wang YD; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis TN, USA., Blan AW; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Almanza-Fuerte EP; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Bonkowski ES; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Bajpai R; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis TN, USA.; Center for Advanced Genome Engineering, St. Jude Children's Research Hospital, Memphis TN, USA., Pruett-Miller SM; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis TN, USA.; Center for Advanced Genome Engineering, St. Jude Children's Research Hospital, Memphis TN, USA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jan 27. Date of Electronic Publication: 2024 Jan 27.