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
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function.
Cha JH et al.
Molecular Therapy. Nucleic Acids, 2024
39104869 (PubMed )
Supplement: mmc1.pdf
The mutation R107Q alters mtSSB ssDNA compaction ability and binding dynamics.
Martucci M et al.
Nucleic Acids Research, 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
38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing.
Jun JW et al.
Ophthalmic Genetics, 2023
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
Chang YH et al.
Investigative Ophthalmology & Visual Science, 2022
Mechanisms of SSBP1 variants in mitochondrial disease: Molecular dynamics simulations reveal stable tetramers with altered DNA binding surfaces.
Gustafson MA et al.
Dna Repair, 2021
Characterization of SSBP1-related optic atrophy and foveopathy.
Meunier I et al.
Scientific Reports, 2021
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication.
Jiang M et al.
Science Advances, 2021
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V et al.
The Journal of Clinical Investigation, 2020
Select a paper to view details