Margaret A Gustafson Elizabeth M McCormick Lalith Perera Matthew J Longley Renkui Bai Jianping Kong Matthew Dulik Lishuang Shen Amy C Goldstein Shana E McCormack Benjamin L Laskin Bart P Leroy Xilma R Ortiz-Gonzalez Meredith G Ellington William C Copeland Marni J Falk
10.1371/journal.pone.0221829
PLoS One
2019 Sep 3;14(9):e0221829.
CC0
https://pubmed.ncbi.nlm.nih.gov/31479473/
Acyl-CoA Dehydrogenase, Long-Chain / deficiency Congenital Bone Marrow Failure Syndromes / genetics DNA, Mitochondrial / genetics DNA-Binding Proteins / genetics Kearns-Sayre Syndrome / genetics Leigh Disease / genetics Lipid Metabolism, Inborn Errors / genetics Mitochondrial Diseases / genetics Mitochondrial Proteins / genetics Muscular Diseases / genetics Mutation
Acyl-CoA Dehydrogenase, Long-Chain / deficiency Congenital Bone Marrow Failure Syndromes / genetics DNA, Mitochondrial / genetics DNA-Binding Proteins / genetics Kearns-Sayre Syndrome / genetics Leigh Disease / genetics Lipid Metabolism, Inborn Errors / genetics Mitochondrial Diseases / genetics Mitochondrial Proteins / genetics Muscular Diseases / genetics Mutation Case Reports Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Acyl-CoA Dehydrogenase, Long-Chain / genetics Adolescent Amino Acid Sequence Cell Line Child Congenital Bone Marrow Failure Syndromes / complications DNA-Binding Proteins / chemistry DNA-Binding Proteins / metabolism Exome Sequencing Heterozygote Humans Kearns-Sayre Syndrome / complications Leigh Disease / complications Lipid Metabolism, Inborn Errors / complications Male Mitochondrial Diseases / complications Mitochondrial Proteins / chemistry Mitochondrial Proteins / metabolism Molecular Dynamics Simulation Muscular Diseases / complications Phenotype Protein Stability Protein Structure, Quaternary Sequence Deletion DNA, Mitochondrial DNA-Binding Proteins Mitochondrial Proteins SSBP1 protein, human Acyl-CoA Dehydrogenase, Long-Chain VLCAD deficiency
PMC6719858
31479473
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
2019