| The mitochondrial carboxylase PCCA interacts with Listeria monocytogenes phospholipase PlcB to modulate bacterial survival. | The mitochondrial carboxylase PCCA interacts with Listeria monocytogenes phospholipase PlcB to modulate bacterial survival.
Wang J, Cui M, Liu Y, Chen M, Xu J, Xia J, Sun J, Jiang L, Fang W, Song H, Cheng C., Free PMC Article | 06/28/2024 |
| Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer. | Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.
Du Z, Zhang X, Gao W, Yang J., Free PMC Article | 04/30/2022 |
| A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. | A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA., Free PMC Article | 08/21/2021 |
| Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. | Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.
Bychkov I, Galushkin A, Filatova A, Nekrasov A, Kurkina M, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E., Free PMC Article | 05/15/2021 |
| his work represents a large-scale update on pathogenic mutations in the PCCA and PCCB genes causing Propionic acidemia (PA), and confirms previous reports indicating a major causative role of mutation-induced protein destabilization | Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR. | 06/22/2019 |
| The data indicate that amino acid/nucleotide metabolism-related genes OGDH, PPAT and PCCA acquire somatic mutations in microsatellite instability-high gastric cancers and colorectal cancers and that mutational intratumoral heterogeneity may occur in at least some of these tumors. | Frameshift mutations of OGDH, PPAT and PCCA genes in gastric and colorectal cancers.
Jo YS, Oh HR, Kim MS, Yoo NJ, Lee SH. | 02/2/2019 |
| The majority of patients had mutations in the PCCA gene (18/25). A total of 26 mutations were noted: 20 in the PCCA gene and 6 in PCCB gene. Seventeen mutations were novel (14 in PCCA and 3 in PCCB). The SNP c.937C>T (p.Arg313Ter), was noted in 9/36 (25%) alleles in the PCCA gene | Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. | 04/8/2017 |
| Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene | [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
Chen Z, Wen P, Wang G, Hu Y, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C. | 06/20/2015 |
| Two PCCA mutations, c.229C-->T (p.R77W) and c.1262A-->C (p.Q421P), were identified in a PCCA-deficient patient. | Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT. | 05/16/2015 |
| Mutation analysis of the PCCA gene identified homozygous c.1284+1G>A in patient 1, c.230G>A (p.R77Q) and c.1855C>T (p.R619X) in patient 2, homozygous c.2125T>C (p.S709P) in patient 3, and only one mutant allele, c.231+1G>T in patient 4. | Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P. | 10/18/2014 |
| Thsi study presented that Propionic acidemia(PCCA mutation) associated with visual hallucinations | Propionic acidemia associated with visual hallucinations.
Shuaib T, Al-Hashmi N, Ghaziuddin M, Megdad E, Abebe D, Al-Saif A, Doubi A, Aldhalaan H, Abouzied ME, Al-Owain M. | 09/22/2012 |
| propionyl CoA carboxylase alpha polypeptide intronic variations causing aberrantly spliced messenger RNA is associated with propionic and methylmalonic acidemia. | Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B., Free PMC Article | 07/16/2011 |
| cryo-electron microscopy (cryo-EM) reconstruction at 15-A resolution | Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.
Huang CS, Sadre-Bazzaz K, Shen Y, Deng B, Zhou ZH, Tong L., Free PMC Article | 10/23/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| 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. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. | 09/15/2010 |
| 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 |
| Activities of propionyl-CoA carboxylase were not significantly different in pancreatic islets of patients with type 2 diabetes from those of the control. | Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.
MacDonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG., Free PMC Article | 01/21/2010 |
| This work describes for the first time the high frequency of large genomic deletions in the PCCA gene, which could be due to the characteristics of the PCCA gene structure and its abundance in intronic repetitive elements. | High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M. | 01/21/2010 |
| analysis of propionyl-CoA carboxylase containing pathogenic mutations in the beta subunit (R165W, E168K, and R410W) and one PCCB polymorphism (A497V) and their structural and functional effects | Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
Jiang H, Rao KS, Yee VC, Kraus JP. | 01/21/2010 |
| pathogenicity of 11 mutations by expression studies and correlation of genotype-phenotype in PCCA-deficient propionic acidemia patients. | Functional characterization of PCCA mutations causing propionic acidemia.
Clavero S, Martínez MA, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR. | 01/21/2010 |
| analysis of PCCA and PCCB mutations in propionic acidemia | New splicing mutations in propionic acidemia.
Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B. | 01/21/2010 |
| Data reported 9 novel PCCA gene mutations and represents an extensive update of the mutational study of propionic acidemia providing important information about the worldwide distribution of PA mutations. | Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M. | 01/21/2010 |