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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Simona Coppola

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Aug 2026

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

Heterozygous carboxyl-terminal variants in the RHO guanosine triphosphatase (GTPase) CDC42 are known to cause severe autoinflammatory syndromes. Here, we identified a heterozygous amino-terminal p.T43I (Thr43→Ile) CDC42 variant in patients with autoinflammation and uncovered a molecular link between CDC42 and the infla...

Mariko Aoki, A. Iannuzzo, P. Mertz et al. · 4 citations
Open access Jul 2026

Metformin improves mitophagy-related pathways and mitochondrial-lysosomal homeostasis in chromosome 21 trisomic fibroblasts

The findings support mitophagy inefficiency due to pathway saturation as a key pathogenetic mechanism in trisomic cells and identify metformin as a pharmacological tool capable of relieving the proteostatic overload intrinsic to trisomy 21.

Nunzia Mollo, Rosalba Natale, M. D’Ariano et al. · 0 citations
Jun 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Evidence is provided that biallelic GIT1 variants affecting transcript processing or causing premature termination underlie a syndromic neurodevelopmental disorder and an essential role for GIT1 in development and cognitive function is established.

P. Failla, V. Muto, Antonella Lauri et al. · 0 citations

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