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VITOBELLO , Antonio

Last name: VITOBELLO

First name: Antonio

2022 (v1)

Publication

Metadata-only

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Scala, Marcello Nishikawa, Masashi Ito, Hidenori

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor...

Uploaded on: February 4, 2024
2022 (v1)

Publication

Metadata-only

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

Vitobello, Antonio Mazel, Benoit Lelianova, Vera G

ADGRL1 (latrophilin 1), a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation, and activity. However, the role of ADGRL1 in human disease has been elusive. Here, we describe ten individuals with variable neurodevelopmental features including developmental delay, intellectual...

Uploaded on: February 4, 2024