| Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China. | Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.
Zhou J, Li G, Deng L, Zhao P, Zeng Y, Qiu X, Luo J, Xu L., Free PMC Article | 08/9/2023 |
| Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review. | Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Guo Z, Gong A, Liu S, Liang H. | 05/8/2023 |
| Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. | Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1.
Paria P, Saini AG, Attri S, Kaur R, Malhi P, Didwal G, Kasinathan A, Bhatia P, Sahu JK, Suthar R, Saini L, Vyas S, Panigrahi I, Sankhyan N. | 07/30/2022 |
| Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. | Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sitta A, Guerreiro G, de Moura Coelho D, da Rocha VV, Dos Reis BG, Sousa C, Vilarinho L, Wajner M, Vargas CR. | 12/25/2021 |
| The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. | The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo M, Remacle N, Cudré-Cung HP, Roux C, Poms M, Cudalbu C, Barroso M, Gersting SW, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Rüfenacht V, Häberle J, Braissant O, Ballhausen D. | 09/11/2021 |
| Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene. | Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Kurkina MV, Mihaylova SV, Baydakova GV, Saifullina EV, Korostelev SA, Pyankov DV, Kanivets IV, Yunin MA, Pechatnikova NL, Zakharova EY. | 07/31/2021 |
| Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. | Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. | 07/10/2021 |
| Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients. | Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
Ribeiro JV, Gomes CM, Henriques BJ., Free PMC Article | 03/6/2021 |
| Homozygous pathogenic missense variant in GCDH gene is associated with glutaric aciduria, type I. | Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
Shadmehri AA, Fattahi N, Pourreza MR, Koohiyan M, Zarifi S, Darbouy M, Sharifi R, Tavakkoly Bazzaz J, Tabatabaiefar MA. | 07/18/2020 |
| We provide a rationale for the possible interallelic complementation observed in heterozygous Glutaric Aciduria Type I patients based on the fact that in GCDH, the low active p.Arg227Pro variant contributes to stabilize the tetramer while the structurally unstable p.Val400Met variant compensates for enzyme activity. | Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.
Ribeiro JV, Lucas TG, Bross P, Gomes CM, Henriques BJ. | 03/7/2020 |
| The GCDH gene variant probably underliee the glutaric aciduria type I | [Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ].
Tan J, Chen D, Yan T, Huang J, Cai R. | 09/28/2019 |
| mutational analysis of variants in the GCDH gene in Chinese families affected with glutaric acidemia type 1 | [Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1].
Shi X, Ke Z, Zheng A, Xie W, Mo G. | 07/6/2019 |
| Molecular genetics analysis identified 14 different mutations in the GCDH gene in the 18 patients with Glutaric acidemia I | Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
Mosaeilhy A, Mohamed MM, C GPD, El Abd HSA, Gamal R, Zaki OK, Zayed H. | 07/28/2018 |
| Four mutations of the glutaryl-CoA dehydrogenase (GCDH) gene were identified among the patients with diagnosis of glutaric acidemia type I (GA-I). | [Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].
Lin Y, Han M, Zheng Z, Lin W, Yu K, Fu Q. | 06/9/2018 |
| We report the allele frequencies for three known Glutaric aciduria type I low excretors GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population | The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. | 12/9/2017 |
| Our data underscore the impact of GCDH protein interactions mediated by amino acid residues on the surface of GCDH required for proper enzymatic activity | Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting SW, Muntau AC, Braulke T, Mühlhausen C. | 09/16/2017 |
| Mutations in GCDH gene observed in the present study indicate genetic heterogeneity in GCDH gene among South Indian population. No definite genotype-phenotype correlations were observed. | Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
Radha Rama Devi A, Ramesh VA, Nagarajaram HA, Satish SP, Jayanthi U, Lingappa L. | 10/8/2016 |
| 2 novel mutations, p.Glu64Asp and p.Gly268Val, account for majority of disease alleles in Cypriot patients with Glutaric aciduria type I; a founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on place of origin of mutation carriers | Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A. | 07/25/2015 |
| Point mutation of GCDH gene is associated with glutaric academia type I. | [Mutation analysis of GCDH gene in four patients with glutaric academia type I].
Liu Q, Chen Y, Chen W. | 06/20/2015 |
| 29 GCDH mutations were identified in 23 glutaric aciduria type 1 patients, including 11 novel mutations | Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y. | 05/30/2015 |
| Data indicate a homozygous c.1244-2A> C mutation of the glutaryl-CoA dehydrogenase (GCDH) gene in both patients. | [Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I].
Shi X, Ke Z, Zheng A, Xie W, Mo G. | 02/14/2015 |
| These cells displayed decreased levels of GCDH tetramer. | Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E. | 04/6/2013 |
| Identification of GCDH gene mutations in four patients with glutaric academia type I. | [Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].
Wen P-, Wang GB, Liu XH, Chen ZL, Shang Y, Cui D, Song P, Yuan Q, Chen SL, Liao JX, Li CR. | 04/6/2013 |
| A homozygous, disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13. | Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Marti-Masso JF, Ruiz-Martínez J, Makarov V, López de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisán-Ruiz C. | 04/14/2012 |
| physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss | Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
Lucas TG, Henriques BJ, Rodrigues JV, Bross P, Gregersen N, Gomes CM. | 01/21/2012 |