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COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency.
Paprocka J, Nowak M, Chuchra P, Śmigiel R. Paprocka J, et al. Metabolites. 2022 Oct 8;12(10):955. doi: 10.3390/metabo12100955. Metabolites. 2022. PMID: 36295857 Free PMC article. Review.
COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. ...In this study we review the clinical manifestation and management of COQ8A-ataxia, focusing on current knowledge of coenzyme Q10 sup …
COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. .. …
2-Propylphenol Allosterically Modulates COQ8A to Enhance ATPase Activity.
Murray NH, Lewis A, Rincon Pabon JP, Gross ML, Henzler-Wildman K, Pagliarini DJ. Murray NH, et al. ACS Chem Biol. 2022 Aug 19;17(8):2031-2038. doi: 10.1021/acschembio.2c00434. Epub 2022 Jul 29. ACS Chem Biol. 2022. PMID: 35904798 Free PMC article.
COQ8A is an atypical kinase-like protein that aids the biosynthesis of coenzyme Q, an essential cellular cofactor and antioxidant. COQ8A's mode of action remains unclear, in part due to the lack of small molecule tools to probe its function. ...
COQ8A is an atypical kinase-like protein that aids the biosynthesis of coenzyme Q, an essential cellular cofactor and antioxidant. …
Hereditary Ataxia Overview.
Perlman S. Perlman S. 1998 Oct 28 [updated 2023 Nov 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. 1998 Oct 28 [updated 2023 Nov 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: 20301317 Free Books & Documents. Review.
Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment.
Manolaras I, Del Bondio A, Griso O, Reutenauer L, Eisenmann A, Habermann BH, Puccio H. Manolaras I, et al. Brain. 2023 Sep 1;146(9):3836-3850. doi: 10.1093/brain/awad099. Brain. 2023. PMID: 36960552
COQ8A-ataxia is a rare form of neurodegenerative disorder due to mutations in the COQ8A gene. ...In the present manuscript, we extend our understanding of the contribution of Purkinje neuron dysfunction to the pathology. By generating a Purkinje-specific conditional …
COQ8A-ataxia is a rare form of neurodegenerative disorder due to mutations in the COQ8A gene. ...In the present manuscript, we …
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.
Cerebellar ataxia is a hallmark of coenzyme Q(10) (CoQ(10)) deficiency associated with COQ8A mutations. We present four patients, one with novel COQ8A pathogenic variants all with early, prominent handwriting impairment, dystonia and only mild ataxia. ...Individuals …
Cerebellar ataxia is a hallmark of coenzyme Q(10) (CoQ(10)) deficiency associated with COQ8A mutations. We present four patients, one …
The cerebellar bioenergetic state predicts treatment response in COQ8A-related ataxia.
Prasuhn J, Göttlich M, Ebeling B, Bodemann C, Großer S, Wellach I, Reuther K, Hanssen H, Brüggemann N. Prasuhn J, et al. Parkinsonism Relat Disord. 2022 Jun;99:91-95. doi: 10.1016/j.parkreldis.2022.05.008. Epub 2022 May 19. Parkinsonism Relat Disord. 2022. PMID: 35642996
METHODS: To address this question, we mapped individual responses in two patients with COQ8A-related ataxia following coenzyme Q10 supplementation using noninvasive imaging. ...CONCLUSIONS: Our results suggest that the cerebellar bioenergetic state may predict treatment re …
METHODS: To address this question, we mapped individual responses in two patients with COQ8A-related ataxia following coenzyme Q10 su …
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Nair P, Lama M, El-Hayek S, Abou Sleymane G, Stora S, Obeid M, Al-Ali MT, Delague V, Mégarbané A. Nair P, et al. Mol Syndromol. 2019 Jan;9(6):319-323. doi: 10.1159/000494465. Epub 2018 Nov 9. Mol Syndromol. 2019. PMID: 30800049 Free PMC article.
Potentially causal homozygous variants in the MED25 (p.Ile173Thr) and COQ8A (p.Arg512Trp) genes were found. The potential pathogenicity of these variants, and the possibility that the 2 variants could synergistically act to produce the phenotype reported, is discussed....
Potentially causal homozygous variants in the MED25 (p.Ile173Thr) and COQ8A (p.Arg512Trp) genes were found. The potential pathogenici …
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. Traschütz A, et al. Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10. Ann Neurol. 2020. PMID: 32337771 Free PMC article.
OBJECTIVE: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including treatment response to coenzyme Q10 (CoQ10) …
OBJECTIVE: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum …
Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency.
Chavira-Hernández G, Piña-Avilés CE, Zúñiga-Ramírez C. Chavira-Hernández G, et al. Mov Disord Clin Pract. 2023 Aug 24;10(Suppl 3):S41-S44. doi: 10.1002/mdc3.13781. eCollection 2023 Aug. Mov Disord Clin Pract. 2023. PMID: 37636224 No abstract available.
55 results