Matches in SemOpenAlex for { <https://semopenalex.org/work/W4309396809> ?p ?o ?g. }
- W4309396809 endingPage "212" @default.
- W4309396809 startingPage "201" @default.
- W4309396809 abstract "Mutations in POLG, the gene encoding the catalytic subunit of DNA polymerase gamma, result in clinical syndromes characterized by mitochondrial DNA (mtDNA) depletion in affected tissues with variable organ involvement. The brain is one of the most affected organs, and symptoms include intractable seizures, developmental delay, dementia, and ataxia. Patient-derived induced pluripotent stem cells (iPSCs) provide opportunities to explore mechanisms in affected cell types and potential therapeutic strategies. Fibroblasts from two patients were reprogrammed to create new iPSC models of POLG-related mitochondrial diseases. Compared with iPSC-derived control neurons, mtDNA depletion was observed upon differentiation of the POLG-mutated lines to cortical neurons. POLG-mutated neurons exhibited neurite simplification with decreased mitochondrial content, abnormal mitochondrial structure and function, and increased cell death. Expression of the mitochondrial kinase PTEN-induced kinase 1 (PINK1) mRNA was decreased in patient neurons. Overexpression of PINK1 increased mitochondrial content and ATP:ADP ratios in neurites, decreasing cell death and rescuing neuritic complexity. These data indicate an intersection of polymerase gamma and PINK1 pathways that may offer a novel therapeutic option for patients affected by this spectrum of disorders." @default.
- W4309396809 created "2022-11-26" @default.
- W4309396809 creator A5006440659 @default.
- W4309396809 creator A5007301778 @default.
- W4309396809 creator A5015859389 @default.
- W4309396809 creator A5020870223 @default.
- W4309396809 creator A5024874881 @default.
- W4309396809 creator A5032437792 @default.
- W4309396809 creator A5048398529 @default.
- W4309396809 creator A5048813078 @default.
- W4309396809 creator A5058883788 @default.
- W4309396809 creator A5060252949 @default.
- W4309396809 creator A5067691690 @default.
- W4309396809 creator A5072619626 @default.
- W4309396809 creator A5072629352 @default.
- W4309396809 creator A5088260835 @default.
- W4309396809 date "2023-02-01" @default.
- W4309396809 modified "2023-10-18" @default.
- W4309396809 title "iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite Simplification" @default.
- W4309396809 cites W1534829748 @default.
- W4309396809 cites W1817943252 @default.
- W4309396809 cites W1853661044 @default.
- W4309396809 cites W1958394803 @default.
- W4309396809 cites W2003712218 @default.
- W4309396809 cites W2026779731 @default.
- W4309396809 cites W2031782684 @default.
- W4309396809 cites W2040020676 @default.
- W4309396809 cites W2044370135 @default.
- W4309396809 cites W2044897807 @default.
- W4309396809 cites W2053244885 @default.
- W4309396809 cites W2064005757 @default.
- W4309396809 cites W2065820486 @default.
- W4309396809 cites W2069501159 @default.
- W4309396809 cites W2087360216 @default.
- W4309396809 cites W2090505404 @default.
- W4309396809 cites W2096286148 @default.
- W4309396809 cites W2099540110 @default.
- W4309396809 cites W2104250033 @default.
- W4309396809 cites W2125559123 @default.
- W4309396809 cites W2138977668 @default.
- W4309396809 cites W2153029275 @default.
- W4309396809 cites W2160697936 @default.
- W4309396809 cites W2163141588 @default.
- W4309396809 cites W2163176001 @default.
- W4309396809 cites W2168458739 @default.
- W4309396809 cites W2215582843 @default.
- W4309396809 cites W2226363993 @default.
- W4309396809 cites W2278006743 @default.
- W4309396809 cites W2512232080 @default.
- W4309396809 cites W2529714152 @default.
- W4309396809 cites W2556590524 @default.
- W4309396809 cites W2565787913 @default.
- W4309396809 cites W2566527705 @default.
- W4309396809 cites W2592267203 @default.
- W4309396809 cites W2619986275 @default.
- W4309396809 cites W2746123300 @default.
- W4309396809 cites W2795937017 @default.
- W4309396809 cites W2799977282 @default.
- W4309396809 cites W2800471357 @default.
- W4309396809 cites W2900457101 @default.
- W4309396809 cites W2905417282 @default.
- W4309396809 cites W3029175084 @default.
- W4309396809 cites W4213155194 @default.
- W4309396809 cites W4294884819 @default.
- W4309396809 doi "https://doi.org/10.1016/j.ajpath.2022.11.002" @default.
- W4309396809 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36414085" @default.
- W4309396809 hasPublicationYear "2023" @default.
- W4309396809 type Work @default.
- W4309396809 citedByCount "1" @default.
- W4309396809 countsByYear W43093968092023 @default.
- W4309396809 crossrefType "journal-article" @default.
- W4309396809 hasAuthorship W4309396809A5006440659 @default.
- W4309396809 hasAuthorship W4309396809A5007301778 @default.
- W4309396809 hasAuthorship W4309396809A5015859389 @default.
- W4309396809 hasAuthorship W4309396809A5020870223 @default.
- W4309396809 hasAuthorship W4309396809A5024874881 @default.
- W4309396809 hasAuthorship W4309396809A5032437792 @default.
- W4309396809 hasAuthorship W4309396809A5048398529 @default.
- W4309396809 hasAuthorship W4309396809A5048813078 @default.
- W4309396809 hasAuthorship W4309396809A5058883788 @default.
- W4309396809 hasAuthorship W4309396809A5060252949 @default.
- W4309396809 hasAuthorship W4309396809A5067691690 @default.
- W4309396809 hasAuthorship W4309396809A5072619626 @default.
- W4309396809 hasAuthorship W4309396809A5072629352 @default.
- W4309396809 hasAuthorship W4309396809A5088260835 @default.
- W4309396809 hasConcept C104317684 @default.
- W4309396809 hasConcept C107459253 @default.
- W4309396809 hasConcept C113246987 @default.
- W4309396809 hasConcept C145103041 @default.
- W4309396809 hasConcept C153911025 @default.
- W4309396809 hasConcept C190283241 @default.
- W4309396809 hasConcept C202751555 @default.
- W4309396809 hasConcept C203522944 @default.
- W4309396809 hasConcept C24586158 @default.
- W4309396809 hasConcept C2776804853 @default.
- W4309396809 hasConcept C2777614518 @default.
- W4309396809 hasConcept C2779324830 @default.
- W4309396809 hasConcept C28859421 @default.