Joaquin Maximiliano Espinosa

This study shows that increased mitochondrial metabolism in Down syndrome iPSCs impairs neuroectoderm commitment by reducing ciliation, and this effect can be reversed by inhibiting mitochondrial calcium uptake.

This study identifies metabolic vulnerabilities in Down syndrome B-cell acute lymphoblastic leukemia and shows that Venetoclax effectively targets these vulnerabilities.

The paper presents a Trisomy 21 Model Atlas comparing mouse and human models to show conserved dosage effects and context-specific transcriptional responses across tissues and developmental stages.

This study identifies altered follicular immunity and interferon hyperactivity in Down syndrome through single-cell and spatial profiling of human tonsils.

This study identifies hyperactive interferon signaling and lymphoid tissue disorganization as drivers of adaptive immune dysfunction in Down syndrome across development and aging.

This study shows that trisomy 21 cerebral organoids exhibit Alzheimer's disease amyloid and apoE co-pathologies, with apoE playing a key role in the disease process.

The paper introduces a section-aware RAG system for Down syndrome research that prioritizes experimental results to generate accurate, cited responses.

This study identifies attenuated estrogen signaling and NRIP1 as key factors in trophoblast defects in Down syndrome using patient-derived stem cells.

The paper reports altered hepatic metabolism in Down syndrome using multi-omic analysis of plasma and mouse models, showing increased bile acids and liver dysfunction that can be modulated by diet.

This study shows that inhibiting Mediator kinases CDK8/CDK19 suppresses hyperactive IFN signaling in Down syndrome by affecting transcription, splicing, and lipid metabolism.

This study investigates immune dysregulation in Down syndrome and shows that JAK inhibition with tofacitinib reduces autoimmune symptoms and inflammatory markers without significant adverse effects.

This study performs genome-wide association analyses of congenital heart defects in Down syndrome, identifying suggestive loci associated with specific heart defect subtypes.

The paper shows that correcting interferon receptor gene dosage in a mouse model of trisomy 21 rescues multiple key phenotypes associated with Down syndrome.

The paper shows that modulating the Sonic Hedgehog pathway in trisomic NPCs rescues gene expression dysregulation associated with Down syndrome.

This study identifies a translational control mechanism regulated by PCBP2 and DHX30 that determines the outcome of p53 activation by Nutlin, shifting the response from cell cycle arrest to apoptosis.