| Identification of COQ2 as a regulator of proliferation and lipid peroxidation through genome-scale CRISPR-Cas9 screening in myeloma cells. | Identification of COQ2 as a regulator of proliferation and lipid peroxidation through genome-scale CRISPR-Cas9 screening in myeloma cells.
Li M, Zhang CL, Zhou DS, Chan SH, Liu XQ, Chen SN, Yang ZY, Ju FE, Sang XY, Liu ZX, Zhang QX, Pan YM, Deng SS, Wang XM, Zhong L, Zhang XD, Du X. | 04/16/2024 |
| COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition. | COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.
Kuo MC, Lu YC, Tai CH, Soong BW, Hu FC, Chen ML, Lin CH, Wu RM. | 09/24/2022 |
| COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree. | COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.
Li M, Yue Z, Lin H, Wang H, Chen H, Sun L., Free PMC Article | 10/16/2021 |
| Clinical spectrum in multiple families with primary COQ10 deficiency. | Clinical spectrum in multiple families with primary COQ(10) deficiency.
Hashemi SS, Zare-Abdollahi D, Bakhshandeh MK, Vafaee A, Abolhasani S, Inanloo Rahatloo K, DanaeeFard F, Farboodi N, Rohani M, Alavi A. | 07/10/2021 |
| identified homozygous or compound heterozygous mutations in COQ2 in multiplex families with multiple system atrophy | Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.
Yasuda T, Matsukawa T, Mitsui J, Tsuji S. | 01/4/2020 |
| COQ2 variants contribute to the pathogenesis of Parkinson's disease | COQ2 variants in Parkinson's disease and multiple system atrophy.
Mikasa M, Kanai K, Li Y, Yoshino H, Mogushi K, Hayashida A, Ikeda A, Kawajiri S, Okuma Y, Kashihara K, Sato T, Kondo H, Funayama M, Nishioka K, Hattori N. | 11/16/2019 |
| Results suggest that COQ2 is not a genetic risk factor for multiple system atrophy in Italian population. | Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.
Procopio R, Gagliardi M, Brighina L, Nicoletti G, Morelli M, Ferrarese C, Annesi G, Quattrone A. | 09/7/2019 |
| CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 homozygous variant p.Gly390Ala was identified by Next Generation Sequencing in two cousins. | Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
Gigante M, Diella S, Santangelo L, Trevisson E, Acosta MJ, Amatruda M, Finzi G, Caridi G, Murer L, Accetturo M, Ranieri E, Ghiggeri GM, Giordano M, Grandaliano G, Salviati L, Gesualdo L. | 04/20/2019 |
| Recessive causative mutations in COQ2 are very rare in Italian multiple system atrophy patients. | Mutational analysis of COQ2 in patients with MSA in Italy.
Ronchi D, Di Biase E, Franco G, Melzi V, Del Sorbo F, Elia A, Barzaghi C, Garavaglia B, Bergamini C, Fato R, Mora G, Del Bo R, Fortunato F, Borellini L, Trezzi I, Compagnoni GM, Monfrini E, Frattini E, Bonato S, Cogiamanian F, Ardolino G, Priori A, Bresolin N, Corti S, Comi GP, Di Fonzo A. | 10/21/2017 |
| We defined the structure of COQ2 with relevant implications for mutation screening in patients and demonstrated that, contrary to other COQ gene defects such as ADCK3, there is a correlation between COQ2 genotype and patient's phenotype. | The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E. | 06/10/2017 |
| Findings provide evidence that the previously reported association of COQ2 V393A polymorphism with increased risk of multiple system atrophy in Japanese also applies to Han Chinese, as well as more broadly to other East Asian populations | Association of the COQ2 V393A variant with risk of multiple system atrophy in East Asians: a case-control study and meta-analysis of the literature.
Zhao Q, Yang X, Tian S, An R, Zheng J, Xu Y. | 12/17/2016 |
| The V393A variant in the COQ2 gene increases risk of PD. | Association of the COQ2 V393A Variant with Parkinson's Disease: A Case-Control Study and Meta-Analysis.
Yang X, Xi J, Zhao Q, Jia H, An R, Liu Z, Xu Y., Free PMC Article | 04/30/2016 |
| Results indicated that COQ2 tended to play a population-specific and subtype-depended role in conferring susceptibility to multiple system atrophy | Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy.
Wen XD, Li HF, Wang HX, Ni W, Dong Y, Wu ZY., Free PMC Article | 04/23/2016 |
| This case-control study shows no evidence for an association between ALS and the V393A variant of COQ2 in Han Chinese. | Lack of evidence for an association between the V393A variant of COQ2 and amyotrophic lateral sclerosis in a Han Chinese population.
Yang X, Xi J, An R, Yu L, Lin Z, Zhou H, Xu Y. | 04/16/2016 |
| This study demonstrated that COQ2 gene variants associate with cerebellar subtype of multiple system atrophy in Chinese. | COQ2 gene variants associate with cerebellar subtype of multiple system atrophy in Chinese.
Lin CH, Tan EK, Yang CC, Yi Z, Wu RM. | 11/28/2015 |
| Multiple system atrophy due to recessive COQ2 mutations (including exon dosage) was not observed in our study | Analysis of COQ2 gene in multiple system atrophy.
Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA., Free PMC Article | 04/4/2015 |
| The recessive COQ2 mutations recently were nominated to be the genetic cause in a subset of familial and sporadic MSA cases. | Update on novel familial forms of Parkinson's disease and multiple system atrophy.
Fujioka S, Ogaki K, Tacik PM, Uitti RJ, Ross OA, Wszolek ZK., Free PMC Article | 07/12/2014 |
| A novel homozygous mutation in COQ2 (c.905C>T,p.Ala302Val) found in dizygotic twins is linked to fatal infantile multisystem disease. | A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ. | 12/7/2013 |
| Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease. | Mutations in COQ2 in familial and sporadic multiple-system atrophy.
Multiple-System Atrophy Research Collaboration. | 07/27/2013 |
| [review] Primary CoQ10 deficiency is due to defects in CoQ10 biosynthesis, while secondary forms are due to other causes. | Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M., Free PMC Article | 11/3/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic 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. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C. | 06/30/2010 |
| COQ2 mutations cause a primary glomerular disease with renal lesions that vary in severity and are not necessarily associated with neurological signs. | COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F. | 01/21/2010 |
| Substitution of a highly conserved tyrosine to cysteine at amino acid 297 of COQ2 is the first molecular cause of primary CoQ(10) deficiency. | A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.
Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M., Free PMC Article | 01/21/2010 |
| Treatment with CoQs having shorter isoprenoid chains, especially CoQ2, induced apoptosis in p53-point mutated BALL-1 cells, whereas treatment with longer isoprenoid chains did not. | Coenzyme Q2 induced p53-dependent apoptosis.
Esaka Y, Nagahara Y, Hasome Y, Nishio R, Ikekita M. | 01/21/2010 |
| We have found that both 3-[(cholamidopropyl)dimethylammonio]-1-propanesulfonate and sodium cholate, but not sodium deoxycholate, lysophosphatidyl choline, or octylglucoside, significantly stimulate ubiquinone activity over that measured with Triton X-100. | Stimulation of polyprenyl 4-hydroxybenzoate transferase activity by sodium cholate and 3-[(cholamidopropyl)dimethylammonio]-1-propanesulfonate.
Burón MI, Hermán MD, Alcaín FJ, Villalba JM. | 01/21/2010 |