| Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX. | Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.
Nomura K, Kitagawa Y, Aihara M, Ohki Y, Furuyama K, Hirokawa T. | 01/15/2022 |
| 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. | 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ, Ramanujam VMS. | 07/10/2021 |
| Inhibition of ALAS1 activity exerts anti-tumour effects on colorectal cancer in vitro. | Inhibition of ALAS1 activity exerts anti-tumour effects on colorectal cancer in vitro.
Zhao Y, Zhang X, Liu Y, Ma Y, Kong P, Bai T, Han M, Li B., Free PMC Article | 02/20/2021 |
| The mutation in CLPX inactivates its ATPase activity, resulting in coassembly of mutant and WT protomers to form an enzyme with reduced activity. The presence of low-activity CLPX increases the posttranslational stability of ALAS, causing increased ALAS protein and ALA levels, leading to abnormal accumulation of PPIX. | Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH., Free PMC Article | 06/9/2018 |
| the heme-binding site in the N-terminal region of the mature ALAS1 protein is also necessary for the heme-dependent oxidation of ALAS1. | Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis.
Kubota Y, Nomura K, Katoh Y, Yamashita R, Kaneko K, Furuyama K., Free PMC Article | 05/20/2017 |
| ALAS1 mRNA and activity were elevated approximately ~3- and 5-fold, and HMB synthase activity was approximately half-normal (~42%) | Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ., Free PMC Article | 06/11/2016 |
| The -853T variant functions as an enhancer in the presence of estrogen and speculates that the -1253A variant reduces transcription activity. | Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen.
du Plessis N, Kimberg M, Zaahl MG, Sadie A, Venter M, van der Merwe L, Louw A, Warnich L. | 12/28/2013 |
| These results indicate that ALAS1 is a novel NR5A-target gene and participates in steroid hormone production. | Nuclear receptor 5A (NR5A) family regulates 5-aminolevulinic acid synthase 1 (ALAS1) gene expression in steroidogenic cells.
Ju Y, Mizutani T, Imamichi Y, Yazawa T, Matsumura T, Kawabe S, Kanno M, Umezawa A, Kangawa K, Miyamoto K. | 01/26/2013 |
| Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells. | Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.
Tian Q, Li T, Hou W, Zheng J, Schrum LW, Bonkovsky HL., Free PMC Article | 10/1/2011 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Casabonne D, Reina O, Benavente Y, Becker N, Maynadié M, Foretová L, Cocco P, González-Neira A, Nieters A, Boffetta P, Middeldorp JM, de Sanjose S., Free PMC Article | 12/5/2010 |
| 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 (3) 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. New genetic associations detected in a host response study to hepatitis B vaccine.
Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M. 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. | 04/7/2010 |
| In this study, we show significant reductions of the rate-limiting enzymes involved in heme biosynthesis, ALAS1 in the postmortem cortex of Alzheimer's disease subjects, providing additional evidence of abnormal heme homeostasis in Alzheimer's disease. | Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimer's disease.
Dwyer BE, Smith MA, Richardson SL, Perry G, Zhu X., Free PMC Article | 01/21/2010 |
| Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin. | Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin.
Zheng J, Shan Y, Lambrecht RW, Donohue SE, Bonkovsky HL. | 01/21/2010 |
| Expression of candidate genes HPRT1 and ALAS1 in malignant and non-malignant prostate tissue samples after microdissection. | [Quantifying gene expression in prostate carcinoma. Which endogenous reference genes are suitable?].
Jung M, Ohl F, Stephan C, Rabien A, Kristiansen G, Radonić A, Loening SA, Jung K. | 01/21/2010 |
| REVIEW: mechanisms involving ALAS deficiency, point mutations, post translational processing, and complex formation with succinyl CoA synthetase subunit B in the pathogenesis of hereditary sideroblastic anemia. | Multiple mechanisms for hereditary sideroblastic anemia.
Furuyama K, Sassa S. | 01/21/2010 |
| REVIEW:active site and mechanistic analysis, protein folding, structure and function. | Circular permutation of 5-aminolevulinate synthase as a tool to evaluate folding, structure and function.
Ferreira GC, Cheltsov AV. | 01/21/2010 |
| in the liver of Acute liver failure patients, there may be an increase in free heme concentration which down-regulating ALAS1 gene expression | Increased heme oxygenase-1 and decreased delta-aminolevulinate synthase expression in the liver of patients with acute liver failure.
Fujii H, Takahashi T, Matsumi M, Kaku R, Shimizu H, Yokoyama M, Ohmori E, Yagi T, Sadamori H, Tanaka N, Akagi R, Morita K. | 01/21/2010 |
| ALAS gene expression is regulated by Hepatic nuclear factor 3 and nuclear factor 1 | Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression.
Scassa ME, Guberman AS, Ceruti JM, Cánepa ET. | 01/21/2010 |
| ALAS expression is regulated by AP-1 complex through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator in human cells | Inhibitory effect of AP-1 complex on 5-aminolevulinate synthase gene expression through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator.
Guberman AS, Scassa ME, Giono LE, Varone CL, Cánepa ET. | 01/21/2010 |
| 5-aminolevulinate synthase gene repression by the potent tumor promoter, TPA, involves multiple signal transduction pathways | Repression of 5-aminolevulinate synthase gene by the potent tumor promoter, TPA, involves multiple signal transduction pathways.
Guberman AS, Scassa ME, Cánepa ET. | 01/21/2010 |
| First described frameshift ALAS2 mutation, CD506-507 (-C). | Onset of X-linked sideroblastic anemia in the fourth decade.
Cortesão E, Vidan J, Pereira J, Gonçalves P, Ribeiro ML, Tamagnini G. | 01/21/2010 |
| Alternative splicing of human ALAS1 generates two mRNAs with different 5'-UTRs: a major one, where exon 1B is omitted, and a minor form containing exon 1B. | An alternatively-spliced exon in the 5'-UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem-mediated decay.
Roberts AG, Redding SJ, Llewellyn DH. | 01/21/2010 |