Heather R. Christofk

This study identifies ALDH1B1's role in mitochondrial GBB and GABA biosynthesis, enhancing fatty acid oxidation in CRC and linking it to tumor progression.

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

This study identifies PPARG as a key regulator of adipogenic differentiation in liposarcoma, showing its loss contributes to the aggressive phenotype of dedifferentiated liposarcoma.

This paper shows that truncating ASXL1 variants disrupt mitochondrial pyruvate transport, leading to metabolic changes and Wnt signaling dysregulation in Bohring-Opitz syndrome and myeloid leukemia.

This study identifies OGDHL as a regulator of tumor growth, neuroendocrine marker expression, and nucleotide abundance in prostate cancer, with implications for treatment resistance.

This study identifies galectin-1 as a prognostic biomarker for predicting thermal ablation response in hepatocellular carcinoma and shows that targeting Gal-1 enhances ablation efficacy by modulating glycolysis.

The paper identifies the pentose phosphate pathway's role in regulating radial glia cell fate during human cortical development using metabolic assays and genetic manipulations.

This study uses single-cell transcriptomics to analyze EBV lytic reactivation in B cells, revealing abortive, reprogrammed, and host shutoff states with distinct gene expression patterns.

The paper shows that reducing histone H3-mediated Cu1+ production restores Fe-S cluster deficiencies in yeast, linking chromatin and mitochondrial function to Fe-S cluster homeostasis.

This study shows that maintaining human pluripotent stem cells with feeders improves cortical organoid formation by activating TGFβ signaling and naive pluripotency genes, which can be mimicked with TGFβ growth factors.

This study shows that glucose metabolism enhances neonatal heart regeneration by increasing glucose uptake, glycogen storage, and cardiomyocyte proliferation in mice.