Jonathan T. Vu

Autophagy dependent HIF1α proteostasis is compromised in models of PEX1 deficiencies

This study shows that PEX1 deficiencies disrupt HIF1α proteostasis via autophagy, leading to increased HIF1 levels and impaired recovery under hypoxia-reoxygenation.

POCKET-seq enables genome-wide profiling of on- and off-target transcriptional regulation events by dCas9-KRAB during CRISPR interference experiments

POCKET-seq maps dCas9 binding genome-wide to distinguish true and false-positive interactions in CRISPR interference screens.

Interstrand Crosslinks in Donor DNA Boost Gene Editing in Human Cells

The paper shows that interstrand crosslinked DNA templates (xHDRTs) significantly boost gene editing efficiency in human cells by up to five-fold, independent of template topology or cell type.

Identification of novel HPFH-like mutations by CRISPR base editing that elevates the expression of fetal hemoglobin

This study uses CRISPR base editing to identify novel mutations in the HBG promoter that increase fetal hemoglobin expression without harmful effects.

Antisense targeting of decoy exons can reduce intron retention and increase protein expression in human erythroblasts

Unbiased detection of CRISPR off-targets in vivo using DISCOVER-Seq

This paper introduces DISCOVER-Seq, a method to detect CRISPR off-targets in vivo with single-base resolution, applicable to multiple Cas nucleases.

CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cells.

This study uses CRISPR-Cas9 to test a putative fetal globin repressor region, finding it does not autonomously silence gamma-globin, suggesting it is not a therapeutic target for beta-hemoglobinopathies.

High-level correction of the sickle mutation amplified in vivo during erythroid differentiation

Cas9-mediated correction of the sickle mutation in human hematopoietic stem cells achieves curative levels of editing.

Double Stranded DNA Damage and Genome Editing Trigger Ribosome Remodeling and Translational Shutdown

This study shows that DNA double-strand breaks cause ribosome remodeling and translational shutdown, independent of p53 and preceding transcriptional changes.