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Author

Simona Coppola

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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