Publications

López Begines, Santiago et al. Mutations in DNAJC5 causing Kufs disease in humans induce lipofuscinosis in mice by a dominant-negative mechanism.

Science Advances 2025.

Electrophysiology, transgenic models, and proteomics data analysis for CLN4 neurodegeneration.

Emilio Martinez-Marquez; Santiago Reyes-Leon; Flores Garcia-San-Jose; Santiago Lopez-Begines et al. Cholinergic Modulation of Chandelier Cells via Heteromeric Nicotinic Receptors in Prefrontal Cortex.

BioRxiv 2025.

Santiago López-Begines & Fernández-Chacón et al. Handshaking for ultrafast endocytosis: Dynamin1xA and Endophilin A1 sealed the deal.

EMBO Journal 2024.

Synaptic vesicle biology and ultrafast endocytosis.

Anna Plana-Bonamaisó, Santiago López-Begines, et al. Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions.

eLife 2020.

Quantitative analysis of synaptic protein interactions.

Anna Plana-Bonamaisó, Santiago López-Begines, et al. GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress.

Cell Death & Disease 2020.

López-Begines, Santiago; Plana-Bonamaisó, Anna; Méndez, Ana. Molecular determinants of Guanylate Cyclase Activating Protein subcellular distribution in photoreceptor cells of the retina.

Scientific Reports 2018.

López-del Hoyo* N; López-Begines* S; Rosa JL; Chen J; Méndez A. Mutations that impair Ca2+ binding in Guanylate Cyclase Activating Protein 2 cause retinal degeneration in vivo due to conformational instability.
*Equal contribution

PLOS Genetics 2014.

López-del Hoyo N, Fazioli L, López-Begines S, Fernández-Sánchez L, Cuenca N, Llorens J, Villa P, Méndez A. Overexpression of guanylate cyclase activating protein 2 in rod photoreceptors in vivo leads to morphological changes at the synaptic ribbon.

PLOS ONE 2012.