Danielle Springer

Immunoregulatory gene GIMAP6 suppresses lethal atherosclerotic vasculopathy and ischemic heart failure

This study shows that GIMAP6 loss leads to inflammatory vasculopathy and atherosclerosis, causing heart failure and early death, and identifies GIMAP6 as a protective factor against cardiovascular disease.

Mutation of a single cysteine in CaMKIIδ protects the heart from ischemia-reperfusion Injury

This study shows that mutating Cys273 in CaMKIIδ prevents disulfide formation, protecting the heart from ischemia-reperfusion injury without affecting normal cardiac function.

AAV-Delivered RNAi Targeting Mutant LDB3 Prevents and Reverses Myofibrillar Myopathy through Mechanosignaling Restoration

This study shows that AAV-delivered RNAi targeting mutant LDB3 can reverse or prevent myofibrillar myopathy by restoring mechanosignaling pathways in mice.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

Apolipoprotein-L1 G1 variant contributes to hydrocephalus but not to atherosclerosis in apolipoprotein-E knock-out mice

The paper investigates the role of APOL1 variants in cardiovascular and neurological diseases using mice, finding APOL1-G1 contributes to hydrocephalus but not atherosclerosis.

CTCF barrier breaking by ZFP661 promotes protocadherin diversity in mammalian brains

ZFP661 blocks cohesin trapping by CTCF and increases protocadherin diversity for proper cortical dendritic arborization.

A PARP inhibitor, rucaparib, improves cardiac dysfunction in ADP-ribose-acceptor hydrolase 3 (Arh3) deficiency

This study shows that ARH3 deficiency causes cardiac dysfunction and that rucaparib, a PARP inhibitor, improves cardiac contractility and reduces infarct size in ARH3-deficient mice.

Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA

The paper shows that maternal loss of imprinting at the H19/IGF2 locus causes cardiac pathologies in mice, with Igf2 driving transient hypertrophy and H19 causing progressive fibrosis and reduced ventricular function.

Neuron specific ablation of eIF5A or deoxyhypusine synthase leads to impairment in development and cognitive functions in mice

This study shows that deleting eIF5A or DHPS in mice causes brain development issues and cognitive impairments, with DHPS knockouts showing more severe effects.