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1993 1
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PET117 assembly factor stabilizes translation activator TACO1 thereby upregulates mitochondria-encoded cytochrome C oxidase 1 synthesis.
Sun Q, Shi L, Li S, Li J, Zhang R, Huang X, Shao Y, Feng Z, Peng Y, Yang Z, Liu J, Liu H, Long J. Sun Q, et al. Free Radic Biol Med. 2023 Aug 20;205:13-24. doi: 10.1016/j.freeradbiomed.2023.05.023. Epub 2023 May 27. Free Radic Biol Med. 2023. PMID: 37247699
PET117 was found to interact with and stabilize translational activator of COX1 (TACO1) and prevent its ubiquitination. TACO1 overexpression rescued the inhibitory effects on mitochondria caused by PET117 deficiency. These findings provide evidence for a novel PET11 …
PET117 was found to interact with and stabilize translational activator of COX1 (TACO1) and prevent its ubiquitination. TACO1 …
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
Richman TR, Spåhr H, Ermer JA, Davies SM, Viola HM, Bates KA, Papadimitriou J, Hool LC, Rodger J, Larsson NG, Rackham O, Filipovska A. Richman TR, et al. Nat Commun. 2016 Jun 20;7:11884. doi: 10.1038/ncomms11884. Nat Commun. 2016. PMID: 27319982 Free PMC article.
We determined the atomic structure of TACO1, revealing three domains in the shape of a hook with a tunnel between domains 1 and 3. Mutations in the positively charged domain 1 reduce RNA binding by TACO1. The Taco1 mutant mice develop a late-onset visual impa …
We determined the atomic structure of TACO1, revealing three domains in the shape of a hook with a tunnel between domains 1 and 3. Mu …
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Oktay Y, Güngör S, Zeltner L, Wiethoff S, Schöls L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Töpf A, Yis U, Laurie S, Yaramis A, Zuchner S, Hiz S, Lochmüller H, Schüle R, Horvath R. Oktay Y, et al. J Neuromuscul Dis. 2020;7(3):301-308. doi: 10.3233/JND-200510. J Neuromuscul Dis. 2020. PMID: 32444556 Free PMC article.
BACKGROUND: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. OBJECTIVE: In this report, we describe two independent consanguineou …
BACKGROUND: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been …
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene.
Sferruzza G, Del Bondio A, Citterio A, Vezzulli P, Guerrieri S, Radaelli M, Martinelli Boneschi F, Filippi M, Maltecca F, Bassi MT, Scarlato M. Sferruzza G, et al. Neurol Genet. 2021 Mar 9;7(2):e573. doi: 10.1212/NXG.0000000000000573. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33709035 Free PMC article. No abstract available.
Clinical and neuropathological findings in patients with TACO1 mutations.
Seeger J, Schrank B, Pyle A, Stucka R, Lörcher U, Müller-Ziermann S, Abicht A, Czermin B, Holinski-Feder E, Lochmüller H, Horvath R. Seeger J, et al. Neuromuscul Disord. 2010 Nov;20(11):720-4. doi: 10.1016/j.nmd.2010.06.017. Epub 2010 Aug 19. Neuromuscul Disord. 2010. PMID: 20727754
We have recently identified mutations in the translation activator of cytochrome c oxidase 1 (TACO1) gene, leading to cytochrome c oxidase (COX) deficiency. Here, we report the clinical and neuroimaging findings of five members of a big consanguinous family homozygous for …
We have recently identified mutations in the translation activator of cytochrome c oxidase 1 (TACO1) gene, leading to cytochrome c ox …
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.
Rahman S, Thorburn D. Rahman S, et al. 2015 Oct 1 [updated 2020 Jul 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Oct 1 [updated 2020 Jul 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26425749 Free Books & Documents. Review.
DPC29 promotes post-initiation mitochondrial translation in Saccharomyces cerevisiae.
Hubble KA, Henry MF. Hubble KA, et al. Nucleic Acids Res. 2023 Feb 22;51(3):1260-1276. doi: 10.1093/nar/gkac1229. Nucleic Acids Res. 2023. PMID: 36620885 Free PMC article.
Most of these yeast genes lack orthologues in mammals, and only one such gene-specific translational activator has been proposed in humans-TACO1. The mechanism by which TACO1 acts is unclear because mammalian mitochondrial mRNAs do not have significant 5'-UTRs, and …
Most of these yeast genes lack orthologues in mammals, and only one such gene-specific translational activator has been proposed in humans- …
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmüller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA. Weraarpachai W, et al. Nat Genet. 2009 Jul;41(7):833-7. doi: 10.1038/ng.390. Epub 2009 Jun 7. Nat Genet. 2009. PMID: 19503089
We mapped the defect to chromosome 17q by functional complementation and identified a homozygous single-base-pair insertion in CCDC44, encoding a member of a large family of hypothetical proteins containing a conserved DUF28 domain. CCDC44, renamed TACO1 for translational …
We mapped the defect to chromosome 17q by functional complementation and identified a homozygous single-base-pair insertion in CCDC44, encod …
Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease.
Ferreira N, Andoniou CE, Perks KL, Ermer JA, Rudler DL, Rossetti G, Periyakaruppiah A, Wong JKY, Rackham O, Noakes PG, Degli-Esposti MA, Filipovska A. Ferreira N, et al. PLoS Genet. 2020 Mar 4;16(3):e1008604. doi: 10.1371/journal.pgen.1008604. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32130224 Free PMC article.
To evaluate the effects of infection on mitochondrial disease we used a mouse model of Leigh Syndrome, where a missense mutation in the Taco1 gene results in the loss of the translation activator of cytochrome c oxidase subunit I (TACO1) protein. The mutation leads …
To evaluate the effects of infection on mitochondrial disease we used a mouse model of Leigh Syndrome, where a missense mutation in the T …
Distinct Magnetic Resonance Imaging in a Child With a TACO1 Variant.
Herskind MN, Granild-Jensen JB, Bendixen MT. Herskind MN, et al. JAMA Neurol. 2024 May 6. doi: 10.1001/jamaneurol.2024.1105. Online ahead of print. JAMA Neurol. 2024. PMID: 38709539
This case report describes a unique magnetic resonance imaging result in a young boy with a TACO1 variant....
This case report describes a unique magnetic resonance imaging result in a young boy with a TACO1 variant....
23 results