Davide Aprile

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Mattéa J. Finelli, Davide Aprile, Enrico Castroflorio et al. · Human Molecular Genetics · 2018 · 64 citations · Full text

Genetics, Tbc1d24 Expression, Tbc1d24 Mutations +24

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

Anna Fassio, Antonio Falace, Alessandro Esposito et al. · Frontiers in Cellular Neuroscience · 2020 · 45 citations · Full text

Mitophagy, Dysfunctional Autophagy, Efficient Autophagy Essential +19

TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons

Davide Aprile, Floriana Fruscione, Sımona Baldassari et al. · Cell Death and Differentiation · 2019 · 43 citations · Full text

Human Neurons, Signal Transduction, Molecular Neuroscience +11

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Alessandro Esposito, Antonio Falace, Matias Wagner et al. · Brain · 2019 · 43 citations · Full text

Mitophagy, Genetics, Pathology +20

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations

Reymundo Lozano, Kristin Herman, Melanie Rothfuss et al. · American Journal of Medical Genetics Part A · 2016 · 23 citations

Neurogenomics, Family Members, Neurological Disorder +19