NIH R01 · 2024
Project Summary/Abstract Variants in the tubulin folding cofactor D (TBCD) gene result in a rare early-onset encephalopathy with neurodevelopmental and neurodegenerative features including developmental regression, epilepsy, microcephaly, hypotonia, and spasticity which progresses to immobilization, ventilation, and premature death. TBCD functions as a tubulin-specific chaperone, which plays a crucial role in regulating microtubule dynamics throughout neurodevelopment. Since first reported 7 years ago, modest progress has been made in understanding molecular and cellular mechanisms contributing to disease pathogenesis and therapeutic development. Our team has recently established and…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.