Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Impaired nick recognition and ligation efficiency by LIG1 K845N variant linked to Huntington's disease.
Ratcliffe J et al.
Nar Molecular Medicine, 2025
Single-molecule analysis of gap and nick binding by LIG1 and LIG3α at the final step of DNA repair.
Chatterjee S et al.
Biorxiv : the Preprint Server for Biology, 2025
Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia.
Jiang D et al.
American Journal of Hematology, 2025
Computational studies on the functional and structural impact of pathogenic mutations in enzymes.
Dissanayake UC et al.
Protein Science : a Publication of the Protein Society, 2025
Rare variants of DNA ligase 1 show distinct mechanisms of deficiency.
Veenstra JH et al.
The Journal of Biological Chemistry, 2024
Mechanistic Basis for a Single Amino Acid Residue Mutation Causing Human DNA Ligase 1 Deficiency, A Rare Pediatric Disease.
Zalenski N et al.
Journal of Molecular Biology, 2024
Mutagenic ligation of polβ mismatch insertion products during 8-oxoG bypass by LIG1 and LIG3α at the downstream steps of base excision repair pathway.
Lee KM et al.
Biorxiv : the Preprint Server for Biology, 2024
Structures of LIG1 uncover the mechanism of sugar discrimination against 5'-RNA-DNA junctions during ribonucleotide excision repair.
Balu KE et al.
The Journal of Biological Chemistry, 2024
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.
Alajlan H et al.
Journal of Clinical Immunology, 2024
Structural and biochemical characterization of LIG1 during mutagenic nick sealing of oxidatively damaged ends at the final step of DNA repair.
Balu KE et al.
Biorxiv : the Preprint Server for Biology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Uncovering nick DNA binding by LIG1 at the single-molecule level.
Chatterjee S et al.
Biorxiv : the Preprint Server for Biology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
Structures of LIG1 that engage with mutagenic mismatches inserted by polβ in base excision repair.
Tang Q et al.
Nature Communications, 2022
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Dabrowska-Leonik N et al.
Frontiers in Immunology, 2022
LIG1 syndrome mutations remodel a cooperative network of ligand binding interactions to compromise ligation efficiency.
Jurkiw TJ et al.
Nucleic Acids Research, 2021
DNA ligase I variants fail in the ligation of mutagenic repair intermediates with mismatches and oxidative DNA damage.
Tang Q et al.
Mutagenesis, 2020
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci P et al.
The Journal of Clinical Investigation, 2018
Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach.
Singh AA et al.
3 Biotech, 2011
DNA ligase I fidelity mediates the mutagenic ligation of pol β oxidized and mismatch nucleotide insertion products in base excision repair.
Kamble P et al.
The Journal of Biological Chemistry, 0
Impact of DNA Ligase 1 Genotypes on Childhood Acute Lymphocytic Leukemia.
Hsu PC et al.
In Vivo (athens, Greece), 0