Associated Papers
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 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
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
The mutation R107Q alters mtSSB ssDNA compaction ability and binding dynamics.
Martucci M et al.
Nucleic Acids Research, 2024
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
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J et al.
Jcsm Clinical Reports, 2021
35071983 (PubMed )
Supplement: NIHMS1767033-supplement-Supplementary_Tables.pdf
Characterization of SSBP1-related optic atrophy and foveopathy.
Meunier I et al.
Scientific Reports, 2021
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
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