Naiara Akizu

This study identifies SNX13 and SNX14 as proteins that maintain lysosome membrane integrity and prevent neurodegeneration by supporting lipid homeostasis and repair mechanisms.

GNOMES normalizes and analyzes ChIP-seq and CUT&RUN data, providing differential binding results and quality control metrics through an integrated workflow.

The paper identifies YAP1 and QSER1 as key regulators of developmental signaling pathways in the mammalian epiblast, showing their role in maintaining pluripotency and preventing excessive differentiation.

This study creates a mouse model with the KCNC1-A421V variant to investigate its effects on neuronal excitability and epilepsy, finding impaired function in fast-spiking interneurons and network dysfunction.

This study shows that YAP activity levels control the elongation of h3D-gastruloids by affecting the establishment of anterior and posterior domains.

This study identifies a pathway involving Rtca, Rab10, and Itgb1 that regulates Piezo localization and function, promoting axon regeneration inhibition in Drosophila and mice.

The paper identifies YAP1 as a non-canonical effector of RA signaling essential for atrial lineage commitment in cardiac progenitor cells.

This study shows that IMPDH2 filaments protect neurons from degeneration in AMPD2 deficiency by preventing GTP deprivation.

This paper establishes a pipeline for high-quality single-cell and nuclei suspensions of gastrulating mouse embryos to enable single-cell sequencing analysis of mutant embryos.

The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.

This study shows that SNX14 deficiency causes cerebellar neurodegeneration through lipid metabolism defects and identifies a unique lipid metabolite profile linking acylcarnitine accumulation to neuronal loss.

This study shows that ZikV-NS5 multimerization causes a ciliopathy and premature neurogenesis in neural progenitor cells, identifying potential therapeutic targets for congenital Zika syndrome.