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Published in 2017 at "Cytoskeleton"
DOI: 10.1002/cm.21377
Abstract: Several nuclear and nucleic acidābinding proteins were detected in the proteomic analyses of ciliary fractions from various organisms. Yet very little is known about the role of these proteins in ciliogenesis and ciliary signaling. In…
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Keywords:
dna helicase;
human dna;
important role;
role ciliogenesis ... See more keywords
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Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000620
Abstract: The TWNK gene encodes Twinkle, the mitochondrial DNA helicase that cooperates with the mitochondrial DNA polymerase (POLG) to maintain mitochondrial DNA integrity. Heterozygous TWNK mutations cause autosomal dominant progressive external ophthalmoplegia (PEO). Some patients with…
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Keywords:
pathology;
gene;
parkinsonism;
mitochondrial dna ... See more keywords