Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
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DOI: 10.3389/fncel.2021.803302
Abstract: 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 this study, we reported two sisters, who… read more here.
Keywords: vesicle transport; neuroprogenitor cells; transport; secretory ... See more keywords