Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
(2022)
Journal Article
Moreira, D., Suzuki, A., Silva, A., Varella-Branco, E., Meneghetti, M., Kobayashi, G., …Passos-Bueno, M. (2022). Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport. Frontiers in Cellular Neuroscience, 15, https://doi.org/10.3389/fncel.2021.803302
<jats:p>Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The molecular mechanisms underlying its neuronal phenotype are largely unexplored. In thi... Read More about Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.