Publications

N. Jurkute N, et al. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol, 86 (2019) 368-383. PMID: 31298765.

Gustafson MA, et al. 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. PLoS One, 14 (2019) e0221829. PMID: 31479473.

Del Dotto V, et al. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. J Clin Invest, 130 (2020) 108-125. PMID: 31550240.

Piro-Mégy C, et al. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. J Clin Invest, (2020). PMID: 31550237.

Gustafson MA, et al. Mechanisms of SSBP1 variants in mitochondrial disease: Molecular dynamics simulations reveal stable tetramers with altered DNA binding surfaces. DNA Repair. (2021). PMID: 34464898.