Ida Chiara Guerrera

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

Mitochondrial dysfunction plays a key role in premature musculoskeletal aging in hypochondroplasia mouse model

This study shows that mitochondrial dysfunction contributes to premature musculoskeletal aging in HCH mice, with proteomics revealing altered aging trajectories and bone fragility.

Serum proteomics in newborns reveals a multi-pathway molecular panel for neonatal sepsis, encompassing pathogen sensing, leukocyte recruitment, and endothelial injury.

This study identifies a 53-protein serum panel in newborns associated with three key biological processes in sepsis: pathogen sensing, immune activation, and endothelial injury.

Multiomic Analysis Reveals an IFN-driven Cellular Landscape Effectively Targeted by Ruxolitinib in Hailey-Hailey Disease

This study uses multiomic analysis to identify IFN signaling as a key driver in Hailey-Hailey disease and shows that ruxolitinib treatment reduces inflammation and improves patient outcomes.

Piezo ion channel activation increases the release of therapeutic extracellular vesicles after mechanical stimulation in bioreactors

This study shows that activating Piezo1 ion channels via mechanical shear stress increases extracellular vesicle production from adipose-derived stromal cells in bioreactors.

Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization

This paper shows that abnormal heparan sulfate oligosaccharides from MPS III patients activate microglia to secrete EVs that impair neuronal dendritic arborization.

Alternative TSS use is widespread in Cryptococcus fungi in response to environmental cues and regulated genome-wide by the transcription factor Tur1

The paper identifies widespread alternative TSS usage in Cryptococcus fungi in response to environmental cues and shows that the transcription factor Tur1 regulates this process genome-wide.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments

This paper shows that BIN1 overexpression in mice leads to early structural and functional impairments in hippocampal pathways associated with Alzheimer's disease, independent of A-beta changes.

Cystinosin regulates kidney inflammation through its interaction with galectin-3

This study shows cystinosin regulates kidney inflammation by interacting with galectin-3, enhancing its lysosomal degradation and reducing macrophage infiltration in cystinosis.