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

Mattéa J. Finelli, Davide Aprile, Enrico Castroflorio, +13

Human Molecular Genetics

GeneticsTbc1d24 ExpressionTbc1d24 MutationsDisease Gene IdentificationCellular Neurobiology +22

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

Anna Fassio, Antonio Falace, Alessandro Esposito, +3

Frontiers in Cellular Neuroscience

MitophagyDysfunctional AutophagyEfficient Autophagy EssentialSocial SciencesAutophagy/lysosomal Degradative Pathway +17

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

Davide Aprile, Floriana Fruscione, Sımona Baldassari, +10

Cell Death and Differentiation

Human NeuronsSignal TransductionMolecular NeuroscienceDevelopmental BiologyCell Regulation +9

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

Alessandro Esposito, Antonio Falace, Matias Wagner, +25

Brain

MitophagyGeneticsPathologyDisease Gene IdentificationEpigenetics +18

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

Reymundo Lozano, Kristin Herman, Melanie Rothfuss, +6

American Journal of Medical Genetics Part A

NeurogenomicsFamily MembersNeurological DisorderGeneticsTbc1d24 Mutations +17

Novel Therapeutic Strategies in Alzheimer’s Disease: Pitfalls and Challenges of Anti-Amyloid Therapies and Beyond

Giacomo Tondo, Fabiola De Marchi, Francesca Bonardi, +6

Journal of Clinical Medicine

ImmunologyTraditional TherapiesNeurochemical BiomarkersTau-targeted TherapiesTherapeutics +22

Investigating the Prognostic Role of Peripheral Inflammatory Markers in Mild Cognitive Impairment

Giacomo Tondo, Davide Aprile, Fabiola De Marchi, +6

Journal of Clinical Medicine

An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability

Bruno Sterlini, Alessandra Romei, Chiara Parodi, +9

Cell Death and Disease

APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development

Alessandra Piccini, Enrico Castroflorio, Pierluigi Valente, +15

Cell Reports

Rapid generation of functional engineered 3D human neuronal assemblies: network dynamics evaluated by micro-electrodes arrays

Lorenzo Muzzi, Donatella Di Lisa, Pietro Arnaldi, +4

Journal of Neural Engineering