| COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction. | COQ7 defect causes prenatal onset of mitochondrial CoQ(10) deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C., Free PMC Article | 09/10/2024 |
| Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. | Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S., Free PMC Article | 10/10/2023 |
| Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities. | Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, Bellacchio E, Dallabona C, Shinawi M., Free PMC Article | 08/4/2023 |
| A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population. | A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
Sadr Z, Zare-Abdollahi D, Rohani M, Alavi A. | 06/21/2023 |
| Structure and functionality of a multimeric human COQ7:COQ9 complex. | Structure and functionality of a multimeric human COQ7:COQ9 complex.
Manicki M, Aydin H, Abriata LA, Overmyer KA, Guerra RM, Coon JJ, Dal Peraro M, Frost A, Pagliarini DJ., Free PMC Article | 12/3/2022 |
| Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan. | Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.
Fang HS, Wang CC, Chao CY, Fan WL, Su SC, Wu YR. | 03/5/2022 |
| 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 |
| Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment. | Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
Wang Y, Smith C, Parboosingh JS, Khan A, Innes M, Hekimi S., Free PMC Article | 04/22/2019 |
| Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. | Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.
Lohman DC, Forouhar F, Beebe ET, Stefely MS, Minogue CE, Ulbrich A, Stefely JA, Sukumar S, Luna-Sánchez M, Jochem A, Lew S, Seetharaman J, Xiao R, Wang H, Westphall MS, Wrobel RL, Everett JK, Mitchell JC, López LC, Coon JJ, Tong L, Pagliarini DJ., Free PMC Article | 04/18/2015 |
| 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. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A. | 12/5/2010 |
| The siRNA-mediated knock down leads to an increase in cytoplasmic superoxide dismutase (SOD1) mRNA levels and activity | Superoxide dismutase is regulated by LAMMER kinase in Drosophila and human cells.
James BP, Staatz WD, Wilkinson ST, Meuillet E, Powis G., Free PMC Article | 01/21/2010 |
| action of clioquinol on several age-dependent neurodegenerative diseases with distinct etiologies might result from a slowing down of the aging process through action of the drug on CLK-1. | The anti-neurodegeneration drug clioquinol inhibits the aging-associated protein CLK-1.
Wang Y, Branicky R, Stepanyan Z, Carroll M, Guimond MP, Hihi A, Hayes S, McBride K, Hekimi S. | 01/21/2010 |