Federico Zara

Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant

ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 tumor suppressor gene, encoding neurofibromin. Pathogenic variants include point mutations, exon deletions, and splicing alterations, leading to diverse clinical manifestation...

Human nasal epithelial cells as an integrated platform for biomarker discovery, functional airway studies, and patient-specific stem cell generation

Abstract Studying epithelial dysfunction in respiratory diseases requires physiologically relevant human models that faithfully recapitulate airway structure and function. Primary human nasal epithelial cells (hNECs) represent an accessible and clinically validated system, widely...

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders

The development and maintenance of the nervous system depend on a tightly regulated intracellular transport network in which kinesin superfamily (KIF) motor proteins drive microtubule-based delivery of synaptic vesicle precursors, organelles, mRNAs, and signaling components along...