| Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. | Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.
Uccella S, Pisciotta L, Severino M, Bertini E, Giacomini T, Zanni G, Prato G, De Grandis E, Nobili L, Mancardi MM. | 11/6/2021 |
| Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. | 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., Free PMC Article | 12/12/2020 |
| expand the clinical, molecular and biochemical spectrum of ADCK3 related CoQ10 deficiencies | Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, Assaf N, Segal I, Abed El Rahim H, Shapira H, Urian D, Tzur S, Douiev L, Saada A. | 02/22/2020 |
| Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency. | Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
Stefely JA, Licitra F, Laredj L, Reidenbach AG, Kemmerer ZA, Grangeray A, Jaeg-Ehret T, Minogue CE, Ulbrich A, Hutchins PD, Wilkerson EM, Ruan Z, Aydin D, Hebert AS, Guo X, Freiberger EC, Reutenauer L, Jochem A, Chergova M, Johnson IE, Lohman DC, Rush MJP, Kwiecien NW, Singh PK, Schlagowski AI, Floyd BJ, Forsman U, Sindelar PJ, Westphall MS, Pierrel F, Zoll J, Dal Peraro M, Kannan N, Bingman CA, Coon JJ, Isope P, Puccio H, Pagliarini DJ., Free PMC Article | 09/2/2017 |
| ADCK3/COQ8 localises to mitochondrial cristae and is targeted to this organelle via the presence of an N-terminal localisation signal | AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.
Cullen JK, Abdul Murad N, Yeo A, McKenzie M, Ward M, Chong KL, Schieber NL, Parton RG, Lim YC, Wolvetang E, Maghzal GJ, Stocker R, Lavin MF., Free PMC Article | 07/16/2016 |
| work reveals Mg(2+)-dependent ATPase activity of ADCK3, providing strong support for the theoretical prediction of this protein being a functional atypical kinase. | Preparation and characterization of human ADCK3, a putative atypical kinase.
Wheeler B, Jia Z. | 01/30/2016 |
| a structural foundation for investigating the role of transmembrane association in regulating the biological activity of ADCK3 | A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.
Khadria AS, Mueller BK, Stefely JA, Tan CH, Pagliarini DJ, Senes A., Free PMC Article | 10/17/2015 |
| Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. | Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
Stefely JA, Reidenbach AG, Ulbrich A, Oruganty K, Floyd BJ, Jochem A, Saunders JM, Johnson IE, Minogue CE, Wrobel RL, Barber GE, Lee D, Li S, Kannan N, Coon JJ, Bingman CA, Pagliarini DJ., Free PMC Article | 04/11/2015 |
| These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations | Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF. | 03/3/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ10 deficiency in muscle. | ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M., Free PMC Article | 01/21/2010 |
| CABC1 gene mutations in four ubiquinone-deficient patients in three distinct families were reported. | CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A., Free PMC Article | 01/21/2010 |
| play an important role in mediating p53-inducible apoptosis through the mitochondrial pathway. | Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.
Iiizumi M, Arakawa H, Mori T, Ando A, Nakamura Y. | 01/21/2010 |