Associated Papers
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
38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
Chang YH et al.
Investigative Ophthalmology & Visual Science, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
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
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
Select a paper to view details