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
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
A case with bilateral C-shaped autofluorescence in retinal degeneration.
Hsu H et al.
American Journal of Ophthalmology Case Reports, 2025
Structures of the mitochondrial single-stranded DNA binding protein with DNA and DNA polymerase γ.
Riccio AA et al.
Nucleic Acids Research, 2024
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
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
The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing.
Jun JW et al.
Ophthalmic Genetics, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
Chang YH et al.
Investigative Ophthalmology & Visual Science, 2022
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2021
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
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C et al.
The Journal of Clinical Investigation, 2020
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute N et al.
Annals of Neurology, 2019
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
Gustafson MA et al.
Plos One, 2019