| Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. | Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S., Free PMC Article | 11/16/2023 |
| Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease. | Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease.
Del Caño-Ochoa F, Ramón-Maiques S., Free PMC Article | 12/25/2021 |
| New regulatory mechanism-based inhibitors of aspartate transcarbamoylase for potential anticancer drug development. | New regulatory mechanism-based inhibitors of aspartate transcarbamoylase for potential anticancer drug development.
Lei Z, Wang B, Lu Z, Wang N, Tan H, Zheng J, Jia Z. | 05/22/2021 |
| The Cellular Protein CAD is Recruited into Ebola Virus Inclusion Bodies by the Nucleoprotein NP to Facilitate Genome Replication and Transcription. | The Cellular Protein CAD is Recruited into Ebola Virus Inclusion Bodies by the Nucleoprotein NP to Facilitate Genome Replication and Transcription.
Brandt J, Wendt L, Bodmer BS, Mettenleiter TC, Hoenen T., Free PMC Article | 02/27/2021 |
| Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene. | Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.
Russo R, Marra R, Andolfo I, Manna F, De Rosa G, Rosato BE, Radhakrishnan K, Fahey M, Iolascon A. | 01/2/2021 |
| structural evidences indicated that post-translational carbamylated Lys was not required for Znalpha binding in PaDHPase and in huDHOase. | Crystal structures of monometallic dihydropyrimidinase and the human dihydroorotase domain K1556A mutant reveal no lysine carbamylation within the active site.
Cheng JH, Huang YH, Lin JJ, Huang CY. | 05/25/2019 |
| The catalytic flexibile loop in the dihydrooratase domain possesses an absolutely conserved Phe-1563 residue required for catalytic activity. | Characterization of the catalytic flexible loop in the dihydroorotase domain of the human multi-enzymatic protein CAD.
Del Caño-Ochoa F, Grande-García A, Reverte-López M, D'Abramo M, Ramón-Maiques S., Free PMC Article | 04/20/2019 |
| CAD dihydroorotase and aspartate transcarbamoylase domains self-assembles into dimers and trimers. | Structural Insight into the Core of CAD, the Multifunctional Protein Leading De Novo Pyrimidine Biosynthesis.
Moreno-Morcillo M, Grande-García A, Ruiz-Ramos A, Del Caño-Ochoa F, Boskovic J, Ramón-Maiques S. | 03/24/2018 |
| Detection of the CAD-ALK gene fusion in urine tr-DNA anticipated radiological confirmation of disease progression. Analysis of plasma ctDNA identified ALK kinase mutations that emerged during treatment with the ALK inhibitor entrectinib | Tracking a CAD-ALK gene rearrangement in urine and blood of a colorectal cancer patient treated with an ALK inhibitor.
Siravegna G, Sartore-Bianchi A, Mussolin B, Cassingena A, Amatu A, Novara L, Buscarino M, Corti G, Crisafulli G, Bartolini A, Tosi F, Erlander M, Di Nicolantonio F, Siena S, Bardelli A. | 02/3/2018 |
| Charge neutralization in the active site of the catalytic trimer of aspartate transcarbamoylase promotes diverse structural changes. | Charge neutralization in the active site of the catalytic trimer of aspartate transcarbamoylase promotes diverse structural changes.
Endrizzi JA, Beernink PT., Free PMC Article | 11/4/2017 |
| This study showed that CAD deficiency co-occurrence of anaemia, anisopoikilocytosis, global developmental delay, and seizures. | CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. | 05/13/2017 |
| Previous study found three metal ions in huDHOase active site; in the present study, the putative third metal binding site in type II enzymes, such as StDHOase and ScDHOase, was created and identified. | Creation of a putative third metal binding site in type II dihydroorotases significantly enhances enzyme activity.
Huang YH, Huang CY. | 08/27/2016 |
| Changes in glycosylation in caused by mutations in CAD. | Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH., Free PMC Article | 02/20/2016 |
| These results establish CAD as a downstream effector of Rheb and suggest a possible role of Rheb in regulating de novo pyrimidine nucleotide synthesis | Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) activity.
Sato T, Akasu H, Shimono W, Matsu C, Fujiwara Y, Shibagaki Y, Heard JJ, Tamanoi F, Hattori S., Free PMC Article | 04/25/2015 |
| Recombinant aspartate carbamoyltransferase domain from the CAD enzyme complex forms homotrimers in solution. | Expression, purification, crystallization and preliminary X-ray diffraction analysis of the aspartate transcarbamoylase domain of human CAD.
Ruiz-Ramos A, Lallous N, Grande-García A, Ramón-Maiques S., Free PMC Article | 08/9/2014 |
| The results obtained indicate that mLST8 bridges between CAD and mTOR, and plays a role in the signaling mechanism where CAD is regulated in the mTOR pathway through the association with mLST8 | Association of CAD, a multifunctional protein involved in pyrimidine synthesis, with mLST8, a component of the mTOR complexes.
Nakashima A, Kawanishi I, Eguchi S, Yu EH, Eguchi S, Oshiro N, Yoshino K, Kikkawa U, Yonezawa K., Free PMC Article | 09/7/2013 |
| preliminary X-ray diffraction analysis of the dihydroorotase domain of human CAD | Expression, purification, crystallization and preliminary X-ray diffraction analysis of the dihydroorotase domain of human CAD.
Lallous N, Grande-García A, Molina R, Ramón-Maiques S., Free PMC Article | 05/11/2013 |
| findings show that in prostate tumor cells, CAD fosters androgen receptor translocation into the nucleus and stimulates its transcriptional activity; in radical prostatectomy specimens, CAD expression was not correlated with proliferation markers, but a higher CAD mRNA level was associated with local tumor extension and cancer relapse | Identification of CAD as an androgen receptor interactant and an early marker of prostate tumor recurrence.
Morin A, Fritsch L, Mathieu JR, Gilbert C, Guarmit B, Firlej V, Gallou-Kabani C, Vieillefond A, Delongchamps NB, Cabon F. | 11/24/2012 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
Jia P, Wang L, Meltzer HY, Zhao Z., Free PMC Article | 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 |
| hCPS_DeltaA was not able to fully assume the catalytically competent conformation, with specific activity of CP formation decreased 700-fold. | Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism.
Ahuja V, Powers-Lee SG. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.
Stessman J, Maaravi Y, Hammerman-Rozenberg R, Cohen A, Nemanov L, Gritsenko I, Gruberman N, Ebstein RP. | 03/13/2008 |
| the cad gene is regulated by a nonclassical ERalpha/Sp1-mediated pathway. | Estrogen receptor/Sp1 complexes are required for induction of cad gene expression by 17beta-estradiol in breast cancer cells.
Khan S, Abdelrahim M, Samudio I, Safe S. | 01/21/2010 |
| the nuclear import of CAD appears to promote optimal cell growth | Nuclear localization and mitogen-activated protein kinase phosphorylation of the multifunctional protein CAD.
Sigoillot FD, Kotsis DH, Serre V, Sigoillot SM, Evans DR, Guy HI. | 01/21/2010 |
| Data show that PRMT5 can be found in association with hSWI/SNF complexes and is involved in regulating the expression of carbamoyl-phosphate synthase-aspartate carbamoyltransferase-dihydroorotase. | mSin3A/histone deacetylase 2- and PRMT5-containing Brg1 complex is involved in transcriptional repression of the Myc target gene cad.
Pal S, Yun R, Datta A, Lacomis L, Erdjument-Bromage H, Kumar J, Tempst P, Sif S., Free PMC Article | 01/21/2010 |