| GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome. | GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Sankaran BP, Gupta S, Tchan M, Devanapalli B, Rahman Y, Procopis P, Bhattacharya K., Free PMC Article | 12/4/2021 |
| Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric BOLA1-GLRX5. | Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric BOLA1-GLRX5.
Sen S, Hendricks AL, Cowan JA. | 07/31/2021 |
| Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation. | Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
Saudino G, Suraci D, Nasta V, Ciofi-Baffoni S, Banci L., Free PMC Article | 06/19/2021 |
| A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis. | A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.
Nasta V, Suraci D, Gourdoupis S, Ciofi-Baffoni S, Banci L. | 04/24/2021 |
| GLRX5 rs1007814 showed a statistically marginally significant difference between cases and controls in genotype frequency (case/control: CC 1:6; CT 112:78; TT 752:505, P=0.049361), but no significant differences in allele distribution [odds ratio (OR)=0.852805]In men, we found a minor difference in the genotype frequency (case/control: CC 0:3; CT 72:36; TT 411:280, P=0.037370) and not in allele distribution (OR=1.142857) | Association study of the GLRX5 rs1007814 polymorphism with schizophrenia in the Han Chinese population.
Yang B, Niu W, Chen S, Xu F, Li X, Wu X, Cao Y, Zhang R, Yang F, Wang L, Li W, Xu Y, He L, He G. | 07/21/2018 |
| Patients with GLRX5-associated variant nonketotic hyperglycemia had normal development with childhood-onset spastic paraplegia, spinal lesion, and optic atrophy. | Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL., Free PMC Article | 04/12/2014 |
| crystal structure of GLRX5 revealed a tetrameric organization with the [2Fe-2S] clusters buried in the interior and shielded from the solvent by the conserved beta1-alpha2 loop | The crystal structure of human GLRX5: iron-sulfur cluster co-ordination, tetrameric assembly and monomer activity.
Johansson C, Roos AK, Montano SJ, Sengupta R, Filippakopoulos P, Guo K, von Delft F, Holmgren A, Oppermann U, Kavanagh KL. | 01/29/2011 |
| 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 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts | Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts.
Ye H, Jeong SY, Ghosh MC, Kovtunovych G, Silvestri L, Ortillo D, Uchida N, Tisdale J, Camaschella C, Rouault TA., Free PMC Article | 05/31/2010 |
| No GLRX5 mutations were found among sixty CSA probands examined | Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ., Free PMC Article | 02/1/2010 |
| Mutations in GLRX5 is associated with sideroblastic-like microcytic anemia and iron overload | The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.
Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A. | 01/21/2010 |