Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with singl...
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
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Author / Creator
Gustafson, Margaret A. , McCormick, Elizabeth M. , Perera, Lalith , Longley, Matthew J. , Bai, Renkui , Kong, Jianping , Dulik, Matthew , Shen, Lishuang , Goldstein, Amy C. , McCormack, Shana E. , Laskin, Benjamin L. , Leroy, Bart P. , Ortiz-Gonzalez, Xilma R. , Ellington, Meredith G. , Copeland, William C. and Falk, Marni J.
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochondrial single-stranded DNA-binding protein (SSBP1), which is a tetrameric protein that binds and protects single-...
Alternative Titles
Full title
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
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Record Identifier
TN_cdi_plos_journals_2283954298
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2283954298
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0221829
