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Author

P. Prieto-Matos

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2 papers indexed here

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Open access Sep 2026

A novel de novo DNM1L mutation linked to mitochondrial fission dysfunction in a pediatric patient with epileptic encephalopathy and refractory seizures

Mitochondrial dynamics are essential for neuronal function, with dynamin-related protein 1 (DRP1), encoded by the DNM1L gene, playing a key role in mitochondrial fission. Pathogenic variants in DNM1L are associated with a spectrum of severe neurodevelopmental and neurodegenerative disorders. This study aime...

M. Herrero-Turrión, A. Hernández-Fabián, R. Gómez-Nieto et al. · 0 citations
Open access Jul 2026

An integrated computational, clinical, and functional framework for assessing PTPN11 (SHP2) variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders

The findings provide a refined framework for PTPN11 variant classification, and reveal unexpected SHP2 functions in neural crest development, with lineage-specific sensitivity to SHP2 dosage.

M. Rodríguez-Martín, K. Cheriet, S. Adiba et al. · 0 citations

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