Agnel J. Sfeir

The paper shows that respiration-deficient cells rely on pyruvate carboxylase to prevent asparagine auxotrophy, with effects dependent on mitochondrial heteroplasmy levels.

The paper introduces mtDIVE, a random mtDNA mutagenesis platform, to study genotype-phenotype associations in metabolic contexts and lineages, revealing lineage-specific effects and mutation-specific impacts.

The paper identifies MTERF1 as a suppressor of mtDNA deletion pathologies by showing its loss enhances mitochondrial function through transcriptional relief.

The paper identifies MDF, a repair scar linked to POLQ-driven error-prone repair, as a marker of immune-responsive HRD pancreatic cancer with increased neoantigens and favorable clinical outcomes.

This study demonstrates that RNA transcripts can serve as templates for double-strand break repair in human cells, identifying DNA polymerase-zeta as a key enzyme and revealing genomic scars associated with this process.

This paper develops a method to engineer specific mtDNA deletions in human cells using end-joining machinery and targeted endonucleases, revealing a 75% heteroplasmy threshold for mitochondrial dysfunction.

This study identifies MMEJ as the primary DSB repair pathway in mitosis and reveals RHINO's role in directing mutagenic repair to M phase.

This study shows RAP1 modulates TIP60/p400 complex activity to regulate gene expression, increasing 2-cell-like cells in mouse embryonic stem cells.

The paper identifies an alternative splicing mechanism that regulates hTERT expression during development, linking it to telomerase activity and disease.

The paper shows that mitochondrial DNA breaks trigger a type I interferon response through nuclear sensing, enhancing immune surveillance against genotoxic stress.

This study uses single-molecule imaging to reveal a Recruitment-Retention model for telomere elongation, showing how hTERT and TPP1 regulate hTR dynamics and how mutations affect telomere homeostasis.

The paper investigates how mutant POT1 alleles cause replication stress and telomere fragility, revealing a role for the nuclear pore complex in resolving these defects and telomere repositioning to the nuclear periphery.

This study shows that the helicase domain of Polθ promotes alt-NHEJ by displacing RPA, leading to increased chromosomal translocations and reduced HR-mediated gene targeting.