Mark Evan Graham

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

The paper benchmarks proteomic biomarkers and drug targets in patient-derived cerebral organoids against clinical cohorts, finding they detect most candidates and replicate disease changes in a quarter of reproducible markers.

The paper shows that Anillin-dependent actin assembly at PML NBs protects genome stability by shielding under-replicated DNA across cell cycles.

This study develops a polyanionic peptibody, ACR12, that reduces tau aggregation and restores neuronal protein levels in a tau transgenic mouse model.

The paper shows that early life environmental exposures in male mice lead to neurodevelopmental behaviors and molecular changes, while females are unaffected.

This study shows that a novel Tau antibody, RNJ1, restores proteostasis in a tauopathy model by reducing pathological Tau and normalizing protein and phosphoprotein levels.

This paper describes a protocol to generate cortical brain organoids and optic nerve-like structures from retinal confluent cultures of pluripotent stem cells, showing transcriptional similarity to fetal cortex and functional network activity.

The paper identifies a TWIST1-chromatin regulatory module critical for neural crest cell differentiation and craniofacial patterning through protein interaction and perturbation studies.

This study identifies TWIST1 homodimers and heterodimers with E-proteins as key regulators of lineage-specific differentiation, revealing their distinct roles in mesoderm, neural crest, and endoderm development.