POLG2 disease variants: Analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity

Human Molecular Genetics

Volumn 24, Issue 18, 2015, Pages 5184-5197

  Young, Matthew J ^a   Humble, Margaret M ^a   DeBalsi, Karen L ^a   Sun, Kathie Y ^a   Copeland, William C ^a  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; GREEN FLUORESCENT PROTEIN; HETERODIMER; MITOCHONDRIAL DNA; PROTEIN P55; CARRIER PROTEIN; DNA; DNA DIRECTED DNA POLYMERASE; HYBRID PROTEIN; POLGBETA PROTEIN, HUMAN; PROTEIN BINDING; PROTEIN SUBUNIT;

ARTICLE; BINDING AFFINITY; BIOENERGY; CYTOPLASM; DISSOCIATION CONSTANT; DNA BINDING; DNA SYNTHESIS; EMBRYO; GENE OVEREXPRESSION; HEK293 CELL LINE; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MITOCHONDRIAL RESPIRATION; MITOCHONDRIAL TARGETING SIGNAL; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; STEADY STATE; CELL LINE; CELL RESPIRATION; CHEMISTRY; DOMINANT GENE; GENE EXPRESSION; GENETICS; ISOLATION AND PURIFICATION; METABOLISM; MITOCHONDRION; PROTEIN MULTIMERIZATION; PROTEIN SUBUNIT; PROTEIN TRANSPORT;

CARRIER PROTEINS; CELL LINE; CELL RESPIRATION; DNA; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; GENE EXPRESSION; GENES, DOMINANT; HUMANS; MITOCHONDRIA; PROTEIN BINDING; PROTEIN MULTIMERIZATION; PROTEIN SUBUNITS; PROTEIN TRANSPORT; RECOMBINANT FUSION PROTEINS;

EID: 84940641863     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv240     Document Type: Article

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