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• W4309662657 abstract "The clinical and largely unpredictable heterogeneity of phenotypes in patients with mitochondrial disorders demonstrates the ongoing challenges in the understanding of this semi-autonomous organelle in biology and disease. Previously, we used the gene-breaking transposon to create 1200 transgenic zebrafish strains tagging protein-coding genes (Ichino et al., 2020), including the lrpprc locus. Here, we present and characterize a new genetic revertible animal model that recapitulates components of Leigh Syndrome French Canadian Type (LSFC), a mitochondrial disorder that includes diagnostic liver dysfunction. LSFC is caused by allelic variations in the LRPPRC gene, involved in mitochondrial mRNA polyadenylation and translation. lrpprc zebrafish homozygous mutants displayed biochemical and mitochondrial phenotypes similar to clinical manifestations observed in patients, including dysfunction in lipid homeostasis. We were able to rescue these phenotypes in the disease model using a liver-specific genetic model therapy, functionally demonstrating a previously under-recognized critical role for the liver in the pathophysiology of this disease." @default.
• W4309662657 created "2022-11-29" @default.
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• W4309662657 date "2022-11-21" @default.
• W4309662657 modified "2023-09-30" @default.
• W4309662657 title "Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality" @default.
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• W4309662657 cites W1967501036 @default.
• W4309662657 cites W1973925468 @default.
• W4309662657 cites W1981694585 @default.
• W4309662657 cites W1986275935 @default.
• W4309662657 cites W1989910300 @default.
• W4309662657 cites W1998512131 @default.
• W4309662657 cites W2002679195 @default.
• W4309662657 cites W2013093493 @default.
• W4309662657 cites W2013768888 @default.
• W4309662657 cites W2027569006 @default.
• W4309662657 cites W2055302859 @default.
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• W4309662657 cites W2065921473 @default.
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• W4309662657 cites W2114416343 @default.
• W4309662657 cites W2119273342 @default.
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• W4309662657 cites W2124987635 @default.
• W4309662657 cites W2127322768 @default.
• W4309662657 cites W2131271579 @default.
• W4309662657 cites W2140952049 @default.
• W4309662657 cites W2143302229 @default.
• W4309662657 cites W2144076366 @default.
• W4309662657 cites W2159317666 @default.
• W4309662657 cites W2170076251 @default.
• W4309662657 cites W2172099178 @default.
• W4309662657 cites W2179438025 @default.
• W4309662657 cites W2197124664 @default.
• W4309662657 cites W2199762206 @default.
• W4309662657 cites W2242206668 @default.
• W4309662657 cites W2269880005 @default.
• W4309662657 cites W2323326409 @default.
• W4309662657 cites W2334755221 @default.
• W4309662657 cites W2335016269 @default.
• W4309662657 cites W2337463400 @default.
• W4309662657 cites W2462997437 @default.
• W4309662657 cites W2523515391 @default.
• W4309662657 cites W2580598265 @default.
• W4309662657 cites W2592680546 @default.
• W4309662657 cites W2594844277 @default.
• W4309662657 cites W2617533299 @default.
• W4309662657 cites W2762717139 @default.
• W4309662657 cites W2777277563 @default.
• W4309662657 cites W2790393975 @default.
• W4309662657 cites W2792589345 @default.
• W4309662657 cites W2809281987 @default.
• W4309662657 cites W2894504469 @default.
• W4309662657 cites W2912874484 @default.
• W4309662657 cites W2914859875 @default.
• W4309662657 cites W2917101543 @default.
• W4309662657 cites W2943050178 @default.
• W4309662657 cites W2946121600 @default.
• W4309662657 cites W2962858859 @default.
• W4309662657 cites W2995481296 @default.
• W4309662657 cites W3007039243 @default.
• W4309662657 cites W3021219007 @default.
• W4309662657 cites W3046981728 @default.
• W4309662657 cites W3048528205 @default.
• W4309662657 cites W3106539179 @default.
• W4309662657 cites W3164683859 @default.
• W4309662657 cites W3186179742 @default.
• W4309662657 cites W3194656782 @default.
• W4309662657 cites W3216503620 @default.
• W4309662657 cites W4232909036 @default.
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• W4309662657 doi "https://doi.org/10.7554/elife.65488" @default.
• W4309662657 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36408801" @default.

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